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  • 24-hour ambulatory oximetry

    Sorry, no description available

  • 6

  • 64-slice cardiac cat

    Sorry, no description available

  • A

  • Aarskog syndrome

    Aarskog syndrome is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.


    Fonte: http://www.orpha.net

  • Aase-smith syndrome

    Aase-Smith syndrome type I is a very rare genetic disorder characterised by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. The fingers are thin with absent knuckles and reduced creases over the joints, and patients show an inability to make a full fist. Additional findings may include deformed ears, ptosis, an inability to open the mouth fully, heart defects, and clubfoot.


    Fonte: http://www.orpha.net

  • Abdominal aortic aneurysm

    An abdominal aortic aneurysm is an enlarged area in the lower part of the aorta, the major blood vessel that supplies blood to the body. The aorta, about the thickness of a garden hose, runs from your heart through the center of your chest and abdomen. Because the aorta is the body's main supplier of blood, a ruptured abdominal aortic aneurysm can cause life-threatening bleeding.

    Depending on the size and the rate at which your abdominal aortic aneurysm is growing, treatment may vary from watchful waiting to emergency surgery. Once an abdominal aortic aneurysm is found, doctors will closely monitor it so that surgery can be planned if it's necessary. Emergency surgery for a ruptured abdominal aortic aneurysm can be risky.

    Fonte: Mayo Clinic

  • Abdominal aortography

    Sorry, no description available

  • Abdominal biopsy

    Sorry, no description available

  • Abdominal cat

    Sorry, no description available

  • Abdominal disease

    Sorry, no description available

  • Abdominal wall and proctological diseases

    Sorry, no description available

  • Abdominal wall hernias

    Sorry, no description available

  • Abdominal wall malformations

    Sorry, no description available

  • Abdominal wall surgery

    Sorry, no description available

  • Abdominal x-ray

    Sorry, no description available

  • Abdominal x-ray

    Sorry, no description available

  • Abdominoplasty

    An abdominoplasty, or tummy tuck, is cosmetic surgery to improve the shape of the tummy area (abdomen). It can involve removing fat and excess loose skin and tightening the abdominal muscles.

  • Abrasions

    Sorry, no description available

  • Abscesses

    Sorry, no description available

  • Achalasia

    Sorry, no description available

  • Achondroplasia


    Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means "without cartilage formation." Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe.

    All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch). Characteristic features of achondroplasia include an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (Elements of Morphology, National Human Genome Research Institute

" href="https://ghr.nlm.nih.gov/art/large/macrocephaly.jpeg?ow" data-remote="/art/large/macrocephaly.jpeg" data-source-href="https://elementsofmorphology.nih.gov/index.cgi?tid=1d53660e657259f0" style="border-bottom-width: 1px; border-bottom-style: dashed; border-bottom-color: rgb(144, 144, 144);">macrocephaly) with a Elements of Morphology, National Human Genome Research Institute
" href="https://ghr.nlm.nih.gov/art/large/prominent-forehead.jpeg?ow" data-remote="/art/large/prominent-forehead.jpeg" data-source-href="https://elementsofmorphology.nih.gov/index.cgi?tid=510a51e4083c1d6f" style="border-bottom-width: 1px; border-bottom-style: dashed; border-bottom-color: rgb(144, 144, 144);">prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (Elements of Morphology, National Human Genome Research Institute
" href="https://ghr.nlm.nih.gov/art/large/trident-hand.jpeg?ow" data-remote="/art/large/trident-hand.jpeg" data-source-href="https://elementsofmorphology.nih.gov/index.cgi?tid=727ae65037875fa9" style="border-bottom-width: 1px; border-bottom-style: dashed; border-bottom-color: rgb(144, 144, 144);">trident) appearance. People with achondroplasia are generally of normal intelligence.


Fonte: https://ghr.nlm.nih.gov/condition/achondroplasia

  • Acne

    Sorry, no description available

  • Acoustic neuroma

    Sorry, no description available

  • Acquired brain injury

    Sorry, no description available

  • Acquired heart valve diseases

    Sorry, no description available

  • Acquired immune deficiency syndrome (aids)

    Sorry, no description available

  • Acquired myelopathy

    Sorry, no description available

  • Acquired neuropathies

    Sorry, no description available

  • Acrocallosal syndrome

    Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.


    Fonte: http://www.orpha.net

  • Acrodermatitis enteropathica

    Sorry, no description available

  • Acromegaly

    Sorry, no description available

  • Acth deficiency

    Sorry, no description available

  • Actinic keratosis

    Sorry, no description available

  • Actinomycosis

    Actinomycosis is a rare chronic disease caused by Actinomyces spp., anaerobic Gram-positive bacteria that normally colonize the human mouth and digestive and genital tracts.


    Fonte: https://www.ncbi.nlm.nih.gov


  • Active and passive kinesiotherapy

    Sorry, no description available

  • Active mobilisation - muscle strengthening

    Sorry, no description available

  • Acupuncture

    Acupuncture is a treatment derived from ancient Chinese medicine. Fine needles are inserted at certain sites in the body for therapeutic or preventative purposes.

  • Acute and chronic heart failure

    Sorry, no description available

  • Acute and chronic pancreatitis

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  • Acute and chronic respiratory failure

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  • Acute and chronic thoracic abdominal aortic dissections

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  • Acute and chronic urticaria

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  • Acute aortic dissection

    Sorry, no description available

  • Acute appendicitis

    Sorry, no description available

  • Acute articular rheumatism

    Sorry, no description available

  • Acute back pain

    Sorry, no description available

  • Acute blood disorders

    Sorry, no description available

  • Acute cholecystitis

    Sorry, no description available

  • Acute coronary syndrome

    Sorry, no description available

  • Acute decompensation

    Sorry, no description available

  • Acute generalised exanthematous pustulosis (agep)

    Sorry, no description available

  • Acute hepatitis

    Sorry, no description available

  • Acute liver failure

    Sorry, no description available

  • Acute liver failure

    Sorry, no description available

  • Acute lymphoblastic leukemia

    Sorry, no description available

  • Acute myocardial infarction

    Sorry, no description available

  • Acute respiratory diseases

    Sorry, no description available

  • Acute respiratory failure

    Sorry, no description available

  • Adams-oliver syndrome

    Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.


    Fonte: http://www.orpha.net

  • Adenoid hypertrophy

    Sorry, no description available

  • Adenoiditis

    Sorry, no description available

  • Adenosine deaminase deficiency (ada-scid)

    Sorry, no description available

  • Adnexal pathology

    Sorry, no description available

  • Adrenal gland disorders

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  • Adrenal gland scintigraphy

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  • Adrenal hyperplasia

    Sorry, no description available

  • Adrenal incidentaloma

    Sorry, no description available

  • Adrenal tumour

    Sorry, no description available

  • Adrenogenital syndrome

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  • Adrenoleukodystrophy

    Sorry, no description available

  • Adult gh deficiency

    Sorry, no description available

  • Adult primary immunodeficiency

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  • Adult-onset still's disease

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  • Advanced heart failure

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  • Advanced ovarian cancer

    Sorry, no description available

  • Aerosol therapy

    Sorry, no description available

  • Aesthetic medicine

    Sorry, no description available

  • Aesthetic rhinoplasty

    Sorry, no description available

  • Afibrinogenemia

    Sorry, no description available

  • Age-related physiological changes

    Sorry, no description available

  • Agoraphobia

    Sorry, no description available

  • Aicardi syndrome

    Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.


    Fonte: http://www.orpha.net

  • Aicardi-goutières syndrome

    Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.


    Fonte: http://www.orpha.net

  • Alagille syndrome

    Sorry, no description available

  • Albinism

    Sorry, no description available

  • Alcohol and psychoactive substances dependency

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  • Alcohol dependency

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  • Alcohol rehabilitation

    Sorry, no description available

  • Algodystrophy

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  • Alkaptonuria

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  • Allergic asthma

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  • Allergic contact dermatitis

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  • Allergic reactions to medicines

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  • Allergies

    Sorry, no description available

  • Allergology

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  • Allergy and intolerance to foods and additives

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  • Allergy and respiratory tests

    Sorry, no description available

  • Alopecia

    Sorry, no description available

  • Alpers’ disease

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  • Alpha-1 deficiency

    Sorry, no description available

  • Alport syndrome

    Alport syndrome (AS) is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane.


    Fonte: http://www.orpha.net

  • Alström syndrome

    Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.


    Fonte: http://www.orpha.net

  • Alveolar-capillary diffusion

    Sorry, no description available

  • Alzheimer

    Sorry, no description available

  • Alzheimer’s assessment unit

    Sorry, no description available

  • Amblyopia

    Sorry, no description available

  • Ambulatory blood pressure monitoring

    Sorry, no description available

  • Amebiasis


    Amebiasis is a disease caused by a one-celled parasite called Entamoeba histolytica (ent-a-ME-ba his-to-LI-ti-ka).

  • Amenorrhea

    Sorry, no description available

  • Aminoacidemia

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  • Amniocentesis

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  • Amniotic fluid problems

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  • Amyotrophic lateral sclerosis

    Sorry, no description available

  • Anaemia

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  • Anaemia and sickle-cell disease

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  • Anal and perineal pain

    Sorry, no description available

  • Anal fissures

    Sorry, no description available

  • Anal fistulas

    Sorry, no description available

  • Anal warts

    Sorry, no description available

  • Anaplastic astrocytoma


    Anaplastic astrocytoma is a rare malignant brain tumor. Astrocytomas are tumors that develop from certain star-shaped brain cells called astrocytes. Astrocytes and similar cells form tissue that surrounds and protects other nerve cells found within the brain and spinal cord. Collectively, these cells are known as glial cells and the tissue they form is known as glial tissue. Tumors that arise from glial tissue, including astrocytomas, are collectively referred to as gliomas. The symptoms of anaplastic astrocytomas vary depending upon the specific location and size of the tumor. The specific cause of this tumor is unknown.

    Astrocytomas are classified according to a grading system developed by the World Health Organization (WHO). Astrocytomas come in four grades based upon how fast the cells are reproducing and that likelihood that they will spread (infiltrate) nearby tissue. Grades I or II astrocytomas are nonmalignant and may be referred to as low-grade. Grades III and IV astrocytomas are malignant and may be referred to as high-grade astrocytomas. Anaplastic astrocytomas are grade III astrocytomas. Grade IV astrocytomas are known as glioblastoma multiforme. Lower grade astrocytomas can change into higher grade astrocytomas over time.


    Fonte: https://rarediseases.org/rare-diseases/anaplastic-astrocytoma/

  • Anatomical pathology

    Sorry, no description available

  • Andersen syndrome

    Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.


    Fonte: http://www.orpha.net

  • Androgen insensitivity syndrome

    Sorry, no description available

  • Andrologic diseases

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  • Andrology

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  • Andrology surgery

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  • Aneurysm of sinus of valsalva


    Sinus of Valsalva aneurysm (SVA) is a rare congenital heart malformation of one or more of the aortic sinuses, consisting of a dilation that when unruptured is usually asymptomatic but when ruptured presents with progressive exertional dyspnea, fatigue, chest pain and that can lead to congestive heart failure if left untreated.


    Fonte: www.orpha.net

  • Aneurysm of the aortic arch

    Sorry, no description available

  • Angelman syndrome

    Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.


    Fonte: http://www.orpha.net

  • Angina pectoris

    Sorry, no description available

  • Angiodysplasia

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  • Angiodysplasia clinic

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  • Angioedema

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  • Angiography of abdominal vessels

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  • Angiography of intrathoracic vessels

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  • Angiography of supraaortic vessels

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  • Angiology

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  • Angiomaa

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  • Angioplasty

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  • Angioplasty with stent placement

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  • Aniridia

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  • Ankle mri

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  • Ankle prostheses

    Sorry, no description available

  • Ankle surgery

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  • Ankylosing spondylitis

    Sorry, no description available

  • Anophthalmia plus syndrome

    Anophthalmia plus syndrome is a very rare multiple congenital anomaly syndrome characterized by the presence of anophthalmia or severe microphthalmia, cleft lip/palate, facial cleft and sacral neural tube defects, along with various additional anomalies including congenital glaucoma, iris coloboma, primary hyperplastic vitreous, hypertelorism, low-set ears, clinodactyly, choanal atresia/stenosis, dysgenesis of sacrum, tethering of spinal cord, syringomyelia, hypoplasia of corpus callosum, cerebral ventriculomegaly and endocrine abnormalities. 


    Fonte: http://www.orpha.net

  • Anorectal malformations

    Sorry, no description available

  • Anorectal manometry

    Sorry, no description available

  • Anorexia

    Sorry, no description available

  • Anorexia nervosa

    Sorry, no description available

  • Anoscopy

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  • Anterior rhinoscopy

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  • Anterior tarsal tunnel syndrome

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  • Anterior uveitis

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  • Anti-thrombosis center

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  • Antibiotic resistant infections

    Sorry, no description available

  • Antiplasmin deficiency

    Sorry, no description available

  • Antisperm antibodies

    Sorry, no description available

  • Antithrombin deficiency

    Sorry, no description available

  • Antley-bixler syndrome

    Antley-Bixler syndrome is a very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.


    Fonte: http://www.orpha.net

  • Anxiety

    Sorry, no description available

  • Anxiety and minor mental disorders

    Sorry, no description available

  • Anxiety and panic disorders

    Sorry, no description available

  • Anxiety disorders

    Sorry, no description available

  • Aorta surgery

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  • Aortic and mitral valve disease

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  • Aortic aneurysms

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  • Aortic angiography

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  • Aortic arch aneurysm

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  • Aortic arch angiography

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  • Aortic coarctation

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  • Aortic dissections

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  • Aortic insufficiency

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  • Aortic stenosis

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  • Aortic valve disease

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  • Aortic valve prostheses

    Sorry, no description available

  • Aortic valvulopathy

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  • Aortoenteric fistulae

    Sorry, no description available

  • Aortography

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  • Aortoiliac occlusive disease

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  • Aortoiliac surgery

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  • Apert syndrome

    Sorry, no description available

  • Aphasia

    Sorry, no description available

  • Aphthosis

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  • Appendicitis

    Sorry, no description available

  • Appendicopathy

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  • Arachnoid cysts

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  • Argon laser treatment

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  • Argon plasma coagulation

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  • Arm cat

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  • Arrhythmias

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  • Arrhythmogenic cardiomyopathy

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  • Arrhythmogenic cardiopathy

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  • Arrhythmogenic right ventricular dysplasia

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  • Arrhythmology

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  • Art therapy

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  • Arterial blood gas analysis

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  • Arterial disease

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  • Arterial diseases

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  • Arteriosclerosis

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  • Arteriovenous malformations

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  • Arthralgias

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  • Arthritis


    Arthritis is very common but is not well understood. Actually, “arthritis” is not a single disease; it is an informal way of referring to joint pain or joint disease. There are more than 100 different types of arthritis and related conditions. People of all ages, sexes and races can and do have arthritis, and it is the leading cause of disability in America. More than 50 million adults and 300,000 children have some type of arthritis. It is most common among women and occurs more frequently as people get older.

    Common arthritis joint symptoms include swelling, pain, stiffness and decreased range of motion. Symptoms may come and go. They can be mild, moderate or severe. They may stay about the same for years, but may progress or get worse over time. Severe arthritis can result in chronic pain, inability to do daily activities and make it difficult to walk or climb stairs. Arthritis can cause permanent joint changes. These changes may be visible, such as knobby finger joints, but often the damage can only be seen on X-ray. Some types of arthritis also affect the heart, eyes, lungs, kidneys and skin as well as the joints.


    Fonte: www.arthritis.org/about-arthritis/understanding-arthritis/what-is-arthritis.php

  • Arthrocentesis

    Sorry, no description available

  • Arthrography 

    Sorry, no description available

  • Arthropathies

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  • Arthropathy of the temporomandibular joint

    Sorry, no description available

  • Arthroplasty

    Sorry, no description available

  • Arthrosis

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  • Arthrosis of ankle joint

    Sorry, no description available

  • Arthrosis of the knee

    Sorry, no description available

  • Arthrosis pain

    Sorry, no description available

  • Artificial nutrition

    Sorry, no description available

  • Asbestos testing

    Sorry, no description available

  • Asbestosis

    Sorry, no description available

  • Ascending aortography

    Sorry, no description available

  • Ascites

    Sorry, no description available

  • Assisted reproduction

    Sorry, no description available

  • Asthma

    Sorry, no description available

  • Astrocytoma in paediatric age


    Brain tumors comprise approximately 20% of all childhood malignancies, second only to acute lymphoblastic leukemia in frequency. Astrocytoma is the most common brain tumor (see image shown below), accounting for more than half of all primary CNS malignancies.

    Astrocytomas comprise a wide range of neoplasms that differ in their extent of invasiveness, morphological features, tendency for progression, and clinical course. The most widely accepted grading schema for astrocytomas is the World Health Organization [WHO] that assigns a grade from I to IV based on the degree of anaplasia of tumor cells, proliferation index values and genetic alterations. WHO grade I tumors include pilocytic astrocytomas and subependymal giant cell astrocytomas. WHO grade II tumors include diffuse astrocytomas, oligodendrogliomas and pleomorphic xanthoastrocytomas. WHO grade III tumors include anaplastic astrocytomas and anaplastic pleomorphic xanthoastrocytomas. WHO grade IV tumors include glioblastoma multiforme and diffuse midline gliomas.


    Fonte: http://emedicine.medscape.com/article/985927-overview

  • Astrocytomas

    Sorry, no description available

  • Ataxia with vitamin e deficiency


    Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The  and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs.

  • Ataxia-telangiectasia


    Classic ataxia-telangiectasia (A-T) is characterized by progressive cerebellar ataxia beginning between ages one and four years, oculomotor apraxia, choreoathetosis, telangiectasias of the conjunctivae, immunodeficiency, frequent infections, and an increased risk for malignancy, particularly leukemia and lymphoma. Individuals with A-T are unusually sensitive to ionizing radiation. Non-classic forms of A-T have included adult-onset A-T and A-T with early-onset dystonia.


    Fonte: https://www.ncbi.nlm.nih.gov/books/NBK26468/

  • Atherosclerosis of the carotid arteries

    Sorry, no description available

  • Athletic pubalgia (pubic inguinal pain syndrome)

    Sorry, no description available

  • Atopic dermatitis

    Sorry, no description available

  • Atrial fibrillation

    Sorry, no description available

  • Atrial fibrillation ablation

    Sorry, no description available

  • Atrial septal defect (asd)

    Sorry, no description available

  • Atrial tachycardia

    Sorry, no description available

  • Atrioventricular conduction disorders

    Sorry, no description available

  • Atrophic age-related macular degeneration

    Sorry, no description available

  • Attachments and eyelid surgery

    Sorry, no description available

  • Attention deficit hyperactivity disorder (adhd)

    Sorry, no description available

  • Atypical deglutition

    Sorry, no description available

  • Atypical parkinsonism

    Sorry, no description available

  • Audiology

    Sorry, no description available

  • Audiometry

    Sorry, no description available

  • Auditory evoked potential

    Sorry, no description available

  • Autism

    Sorry, no description available

  • Autistic spectrum disorders

    Sorry, no description available

  • Autoimmune diseases

    Sorry, no description available

  • Autoimmune hepatitis

    Sorry, no description available

  • Autoimmune hepatits

    Sorry, no description available

  • Autoimmune hepatopathy

    Sorry, no description available

  • Autoimmune polyendocrine syndrome

    Sorry, no description available

  • Autoimmune polyendocrine syndrome type i

    Sorry, no description available

  • Autoimmune polyendocrine syndrome type ii

    Sorry, no description available

  • Autoimmune polyendocrine syndrome type iii

    Sorry, no description available

  • Autoimmune polyendocrine syndromes

    Sorry, no description available

  • Autoimmune thyroiditis

    Sorry, no description available

  • Autoinflammatory diseases

    Sorry, no description available

  • Autoinflammatory diseases in adults

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  • Automated external defibrillator

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  • Autorefractometry

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  • Autosomal dominant spinocerebellar ataxias


    The autosomal dominant spinocerebellar ataxias (also known as the SCAs) are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging due to phenotypic overlap amongst numerous acquired, genetic, and idiopathic etiologies, and a stratified and systematic approach is essential. Molecular etiologies include DNA repeat expansions (both polyglutamine and non-coding repeats), ion-channel dysfunction, and disorders of signal transduction. Prompt recognition of acquired conditions or comorbidities is essential as treatment options for the genetic ataxias are currently limited. Recent advances in the field include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models which may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole exome sequencing, to improve diagnosis.


    Fonte: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3818725/

  • Autosomal recessive spastic ataxia of charlevoix-saguenay

    Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.


    Fonte: http://www.orpha.net

  • Auxologia

    Sorry, no description available

  • Av nodal reentrant tachycardia

    Sorry, no description available

  • Avian influenza

    Avian influenza refers to the disease caused by infection with avian (bird) influenza (flu) Type A viruses. These viruses occur naturally among wild aquatic birds worldwide and can infect domestic poultry and other bird and animal species. Avian flu viruses do not normally infect humans. However, sporadic human infections with avian flu viruses have occurred.


    Fonte: https://www.cdc.gov/flu/avianflu/index.htm


  • Axenfeld-rieger syndrome

    Axenfeld-Rieger syndrome (ARS) is a generic term used to designate overlapping genetic disorders, in which the major physical condition is anterior segment dysgenesis of the eye. Patients with ARS may also present with multiple variable congenital anomalies.


    Fonte: http://www.orpha.net

  • B

  • Back pain

    Sorry, no description available

  • Balance disorders

    Sorry, no description available

  • Balanic or glandular epispadia

    Sorry, no description available

  • Baller-gerold syndrome

    Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).


    Fonte: http://www.orpha.net

  • Bannayan-riley-ruvalcaba syndrome

    Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.


    Fonte: http://www.orpha.net

  • Baraitser-winter syndrome

    Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA)) corresponds to the appearance of BWS in elderly patients.


    Fonte: http://www.orpha.net

  • Bardet-biedl syndrome

    Sorry, no description available

  • Bariatric surgery

    Sorry, no description available

  • Barium enema

    Sorry, no description available

  • Barium pharyngography

    Sorry, no description available

  • Bartter syndrome

    Sorry, no description available

  • Basedow disease

    Sorry, no description available

  • Basicranium malformation

    Sorry, no description available

  • Becker muscular dystrophies


    Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.

    Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsen rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. The signs and symptoms of Becker muscular dystrophy are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate.

    Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. These heart problems worsen rapidly and become life-threatening in most cases. Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond.

    A related condition called X-linked dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes classified as subclinical Becker muscular dystrophy. People with X-linked dilated cardiomyopathytypically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing.


    Fonte: https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy


  • Beckwith-wiedemann syndrome

    Sorry, no description available

  • Bedsores

    Sorry, no description available

  • Behavioural disorders

    Sorry, no description available

  • Behavioural sleep disorders

    Sorry, no description available

  • Behçet syndrome

    Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.


    Fonte: http://www.orpha.net

  • Behcets syndrome

    Sorry, no description available

  • Behr syndrome

    Sorry, no description available

  • Benign prostatic hypertrophy

    Benign prostatic hyperplasia—also called BPH—is a condition in men in which the prostate gland is enlarged and not cancerous. Benign prostatic hyperplasia is also called benign prostatic hypertrophy or benign prostatic obstruction.


    Fonte: https://www.niddk.nih.gov

  • Bernard–soulier syndrome

    Sorry, no description available

  • Beta-ketothiolase deficiency

    Sorry, no description available

  • Bicycle ergometry exercise tests

    Sorry, no description available

  • Bilateral breast ultrasound

    Sorry, no description available

  • Bile duct disease

    Sorry, no description available

  • Bile duct injuries

    Sorry, no description available

  • Bile duct neoplasia

    Sorry, no description available

  • Bile duct obstructions

    Bile duct obstruction is a blockage in the tubes that carry bile from the liver to the gallbladder and small intestine.


    Fonte: https://medlineplus.gov/ency/article/000263.htm

  • Bile duct stones

    Sorry, no description available

  • Bile duct tumours

    Sorry, no description available

  • Biliary atresia

    Sorry, no description available

  • Biliary calculus

    Sorry, no description available

  • Biliary cirrhosis

    Sorry, no description available

  • Biliary cysts

    Sorry, no description available

  • Biliary disease

    Sorry, no description available

  • Biliary diseases

    Sorry, no description available

  • Biliary tract atresia

    Sorry, no description available

  • Biliary tract biopsy

    Sorry, no description available

  • Biliary tract malformations

    Sorry, no description available

  • Bilio-intestinal bypass

    Sorry, no description available

  • Biliopancreatic diversion

    Sorry, no description available

  • Binge eating disorder

    Sorry, no description available

  • Biofeedback

    Sorry, no description available

  • Biology

    Sorry, no description available

  • Biopsy

    A biopsy is a procedure that removes cells or tissue from your body. A doctor called a pathologist looks at the cells or tissue under a microscope to check for damage or disease.  Biopsies can be done on all parts of the body. In most cases, a biopsy is the only test that can tell for sure if a suspicious area is cancer. But biopsies are performed for many other reasons too.

  • Biopsy

    Sorry, no description available

  • Biotinidase deficiency

    Sorry, no description available

  • Bipolar disorder

    Sorry, no description available

  • Bipolar disorder in depression phase

    Sorry, no description available

  • Blackfan-diamond anemia (dba)


    Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.


    Fonte: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=124

  • Bladder exstrophy

    Sorry, no description available

  • Bladder reconstruction

    Sorry, no description available

  • Bladder stones

    Sorry, no description available

  • Bladder tumour

    Sorry, no description available

  • Bladder ultrasound

    Sorry, no description available

  • Blastomycosis

    Blastomycosis is an infection caused by a fungus called Blastomyces. The fungus lives in the environment, particularly in moist soil and in decomposing matter such as wood and leaves. People can get blastomycosis after breathing in the microscopic fungal spores from the air. Although most people who breathe in the spores don’t get sick, some of those who do may have flu-like symptoms, and the infection can sometimes become serious if it is not treated.


    Fonte: https://www.cdc.gov/fungal/diseases/blastomycosis/index.html


  • Bleeding disorders

    Sorry, no description available

  • Bleeding gastroduodenal ulcers

    Sorry, no description available

  • Bleeding stomach tumours

    Sorry, no description available

  • Bleeding tumours or tumours related to colonic stenosis with bowel obstruction

    Sorry, no description available

  • Blepharoplasty


    The blepharoplasty is the plastic surgery operation for correcting defects, deformities, and disfigurations of the eyelids; and for aesthetically modifying the eye region of the face. With the excision and the removal, or the repositioning (or both) of excess tissues, such as skin and adipocyte fat, and the reinforcement of the corresponding muscle and tendon tissues, the blepharoplasty procedure resolves functional and cosmetic problems of the periorbita, which is the area from the eyebrow to the upper portion of the cheek. 

  • Blood and hemostasis disorders

    Sorry, no description available

  • Blood donation

    Sorry, no description available

  • Blood test

    Sorry, no description available

  • Bloom syndrome

    Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.


    Fonte: http://www.orpha.net

  • Body contoruring


    Surgical body contouring following major weight loss removes excess sagging skin and fat while improving the shape of the underlying support tissue. The result is a better-proportioned appearance with smoother contours.

    Dramatic weight loss has many benefits. But after any substantial amount of weight loss due to weight loss surgery and/or lifestyle changes, the skin and tissues often lack the elasticity to conform to the reduced body size.

  • Bone and hand and wrist soft tissue tumours

    Sorry, no description available

  • Bone biopsy

    Sorry, no description available

  • Bone marrow biopsy

    Sorry, no description available

  • Bone marrow scintigraphy

    Sorry, no description available

  • Bone marrow transplant center

    Sorry, no description available

  • Bone scintigraphy

    Sorry, no description available

  • Bone tumours

    Sorry, no description available

  • Bonnemann-meinecke-reich syndrome

    Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia.


    Fonte: http://www.orpha.net

  • Borjeson-forssman-lehmann syndrome

    Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.


    Fonte: http://www.orpha.net

  • Botulinum toxin

    Sorry, no description available

  • Botulism


    Botulism is a rare but serious condition caused by toxins from bacteria called Clostridium botulinum. Three common forms of botulism are:

    - Foodborne botulism. The harmful bacteria thrive and produce the toxin in environments with little oxygen, such as in canned food;

    - Wound botulism. If these bacteria get into a cut, they can cause a dangerous infection that produces the toxin;

    - Infant botulism. This most common form of botulism begins after Clostridium botulinum bacterial spores grow in a baby's intestinal tract. It typically occurs between the ages of 2 months and 8 months.

    All types of botulism can be fatal and are considered medical emergencies.


    Fonte: http://www.mayoclinic.org/diseases-conditions/botulism/basics/definition/con-20025875


  • Boucher-neuhäuser syndrome

    Ataxia-hypogonadism-choroidal dystrophy syndrome is a very rare autosomal recessive, slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome. 


    Fonte: http://www.orpha.net

  • Bowel obstruction

    Sorry, no description available

  • Bowel polyps

    Sorry, no description available

  • Brachial plexus injuries

    Sorry, no description available

  • Brachialgia

    Sorry, no description available

  • Brachycephaly

    Sorry, no description available

  • Brachytherapy

    Sorry, no description available

  • Bradyarrhythmia

    Sorry, no description available

  • Brain metastases

    Sorry, no description available

  • Brain mra

    Sorry, no description available

  • Brain mri

    Sorry, no description available

  • Brain spect imaging

    Sorry, no description available

  • Brainstem glioma

    Sorry, no description available

  • Brainstem mri

    Sorry, no description available

  • Branchiootorenal syndrome

    Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).


    Fonte: http://www.orpha.net

  • Breast asymmetries

    Sorry, no description available

  • Breast biopsy

    Sorry, no description available

  • Breast cancer surgery

    Sorry, no description available

  • Breast care medicine

    Sorry, no description available

  • Breast care surgery

    Sorry, no description available

  • Breast centre

    Sorry, no description available

  • Breast disease

    Sorry, no description available

  • Breast diseases

    Sorry, no description available

  • Breast hypertrophy

    Sorry, no description available

  • Breast ptosis

    Sorry, no description available

  • Breast quadrantectomy

    Sorry, no description available

  • Breast reconstruction

    Sorry, no description available

  • Breast surgery

    Sorry, no description available

  • Breast tumours

    Sorry, no description available

  • Breathing disorders

    Sorry, no description available

  • Brief neuropsychological battery

    Sorry, no description available

  • Bronchial asthma

    Sorry, no description available

  • Bronchial biopsy

    Sorry, no description available

  • Bronchial challenge test

    Sorry, no description available

  • Bronchial neoplasia

    Sorry, no description available

  • Bronchiectasis

    Sorry, no description available

  • Bronchogenic cysts

    Sorry, no description available

  • Bronchography

    Sorry, no description available

  • Bronchopneumopathy

    Sorry, no description available

  • Bronchopulmonary carcinoma surgery

    Sorry, no description available

  • Bronchoscopy

    Sorry, no description available

  • Bronchospasm

    Sorry, no description available

  • Brown-vialetto-van laere syndrome

    Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.


    Fonte: http://www.orpha.net

  • Brucellosis


    Brucellosis is an infectious disease caused by bacteria. It can cause of range of signs and symptoms, some of which may present for prolonged periods of time.

  • Brugada syndrome

    Sorry, no description available

  • Bruxism

    Sorry, no description available

  • Bruxism

    Sorry, no description available

  • Bubble study

    Sorry, no description available

  • Budd–chiari syndrome

    Sorry, no description available

  • Bulimia

    Sorry, no description available

  • Bulimia nervosa

    Sorry, no description available

  • Bullous dystrophy

    Sorry, no description available

  • Bullous pemphigoid

    Sorry, no description available

  • Bunions

    Sorry, no description available

  • Burn-out

    Sorry, no description available

  • Burns

    Sorry, no description available

  • Bursitis

    Sorry, no description available

  • Buschke-ollendorff syndrome

    Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.


    Fonte: http://www.orpha.net

  • C

  • C syndrome

    C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.


    Fonte: http://www.orpha.net

  • Calcific tendinitis

    Sorry, no description available

  • Calculus

    Sorry, no description available

  • California encephalitis virus


    California encephalitis virus was discovered in Kern County, California and causes encephalitis in humans. Encephalitis is an acute inflammation of the brain that can cause minor symptoms, such as headaches, to more severe symptoms such as seizures. Mosquitoes serve as its carrier and for this reason this virus is known as an arbovirus (arthropod-borne virus).

  • Canalicular syndromes

    Sorry, no description available

  • Cancer with biliary metastases

    Sorry, no description available

  • Cancer with gallbladder metastases

    Sorry, no description available

  • Cancer with liver metastases

    Sorry, no description available

  • Cancer with pancreatic metastases

    Sorry, no description available

  • Candidiasis


    There are many kinds of fungus that live in the human body. One type is called candida. It’s a type of yeast that normally lives in small amounts in places like your mouth and belly, or on your skin without causing any problems. But when the environment is right, the yeast can multiply and grow out of control. The infection it causes is called candidiasis. There are several different types of it. Most can be easily treated with over-the-counter or prescription medications.


    Fonte: http://www.webmd.com/skin-problems-and-treatments/guide/what-is-candidiasis-yeast-infection#1


  • Capillaroscopy

    Sorry, no description available

  • Capillary malformations

    Sorry, no description available

  • Carcinoids

    Sorry, no description available

  • Carcinoma

    Sorry, no description available

  • Carcinoma of the uterine cervix

    Sorry, no description available

  • Carcinoma of the vagina

    Sorry, no description available

  • Cardiac arrest

    Sorry, no description available

  • Cardiac arrest

    Sorry, no description available

  • Cardiac arrhythmia surgery

    Sorry, no description available

  • Cardiac arrhythmias

    Sorry, no description available

  • Cardiac cat

    Sorry, no description available

  • Cardiac ct scan

    Sorry, no description available

  • Cardiac mri

    Sorry, no description available

  • Cardiac myxoma

    Sorry, no description available

  • Cardiac rehabilitation

    Sorry, no description available

  • Cardiac resynchronization therapy

    Sorry, no description available

  • Cardiac surgery

    Heart surgery is surgery on the heart or great vessels performed by cardiac surgeons. Frequently, it is done to treat complications of ischemic heart disease (for example, coronary artery bypass grafting), correct congenital heart disease, or treat valvular heart disease from various causes including endocarditis, rheumatic heart disease and atherosclerosis. It also includes heart transplantation.

  • Cardiac tumours

    Sorry, no description available

  • Cardiofaciocutaneous syndrome

    Cardiofaciocutaneous syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.


    Fonte: http://www.orpha.net

  • Cardiogenic shock

    Sorry, no description available

  • Cardiology

    Cardiology is a branch of medicine dealing with disorders of the heart as well as parts of the circulatory system. The field includes medical diagnosis and treatment of congenital heart defects, coronary artery disease, heart failure, valvular heart disease and electrophysiology. Physicians who specialize in this field of medicine are called cardiologists, a specialty of internal medicine. Pediatric cardiologists are pediatricians who specialize in cardiology. Physicians who specialize in cardiac surgery are called cardiothoracic surgeons or cardiac surgeons, a specialty of general surgery. Although the cardiovascular system is inextricably linked to blood, cardiology is relatively unconcerned with hematology and its diseases. Some obvious exceptions that affect the function of the heart would be blood tests (electrolyte disturbances, troponins), decreased oxygen carrying capacity (anemia, hypovolemic shock), and coagulopathies.

  • Cardiomyopathies

    Sorry, no description available

  • Cardioncology

    Sorry, no description available

  • Cardiopathy

    Sorry, no description available

  • Cardiopulmonary exercise testing

    Sorry, no description available

  • Cardiotocography

    Sorry, no description available

  • Cardiovascular infections

    Sorry, no description available

  • Cardiovascular surgery

    Cardiovascular (heart) surgery is surgery on the heart or great vessels performed by cardiac surgeons. Frequently, it is done to treat complications of ischemic heart disease (for example, coronary artery bypass grafting), correct congenital heart disease, or treat valvular heart disease from various causes including endocarditis, rheumatic heart disease and atherosclerosis. It also includes heart transplantation.

  • Caroli disease

    Sorry, no description available

  • Carotid arteriography

    Sorry, no description available

  • Carotid artery surgery

    Sorry, no description available

  • Carotid atherosclerosis

    Sorry, no description available

  • Carotid body diseases

    Sorry, no description available

  • Carotid disease

    Sorry, no description available

  • Carotid occlusive disease

    Sorry, no description available

  • Carotid stenosis

    Sorry, no description available

  • Carpal tunnel

    Sorry, no description available

  • Carpal tunnel surgery

    Sorry, no description available

  • Carpal tunnel syndrome

    Sorry, no description available

  • Carpenter syndrome

    Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.


    Fonte: http://www.orpha.net

  • Cat, pet and scintigraphy

    Sorry, no description available

  • Cataract surgery

    Sorry, no description available

  • Cataracts

    Sorry, no description available

  • Catecholaminergic polymorphic ventricular tachycardia

    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia (VT) manifesting as syncope and sudden death.


    Fonte: http://www.orpha.net

  • Caval thrombosis

    Sorry, no description available

  • Cavernosography

    Sorry, no description available

  • Cavernous haemangioma

    Sorry, no description available

  • Cavities

    Sorry, no description available

  • Cefaly center

    Sorry, no description available

  • Cellulitis

    Sorry, no description available

  • Central core disease

    Central core disease (CCD) is an inherited neuromuscular disorder characterised by central cores on muscle biopsy and clinical features of a congenital myopathy. Prevalence is unknown. CCD typically presents in infancy with hypotonia and motor developmental delay and is characterized by predominantly proximal weakness, pronounced in the hip girdle. Orthopaedic complications are common and malignant hyperthermia susceptibility (MHS) is a frequent complication. 


    Fonte: http://www.orpha.net


  • Central nervous system infections

    Sorry, no description available

  • Central nervous system lymphoma

    Sorry, no description available

  • Central sleep apnoea

    Sorry, no description available

  • Centre for smoking cessation

    Sorry, no description available

  • Centronuclear myopathy

    Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.


    Fonte: http://www.orpha.net

  • Cerebellar ataxia

    Sorry, no description available

  • Cerebellar pilocytic astrocytoma

    Sorry, no description available

  • Cerebral aneurysms

    Sorry, no description available

  • Cerebral doppler ultrasound

    Sorry, no description available

  • Cerebral haemorrhage

    Sorry, no description available

  • Cerebral haemorrhage complications

    Sorry, no description available

  • Cerebral palsy

    Sorry, no description available

  • Cerebral stroke

    Sorry, no description available

  • Cerebral vasculitis

    Sorry, no description available

  • Cerebral vasculopathy

    Sorry, no description available

  • Cerebrospinal fluid systems

    Sorry, no description available

  • Cerebrovascular disease

    Sorry, no description available

  • Ceroid-lipofuscinosis

    Sorry, no description available

  • Cervical biopsy

    Sorry, no description available

  • Cervical cancer surgery

    Sorry, no description available

  • Cervical disc herniation

    Sorry, no description available

  • Cervical disease

    Sorry, no description available

  • Cervical mri

    Sorry, no description available

  • Cervical tumour

    Sorry, no description available

  • Cervicalgia

    Sorry, no description available

  • Cervicobrachalgia


    Cervicobrachalgia is term that describes pain and stiffness of the cervical spine with symptoms in the shoulder girdle and upper extremity. It can be associated with tingling, numbness or discomfort in the arm, upper back and upper chest with or without an associated headache.


    Fonte: https://www.physio-pedia.com/Cervicobrachial_Syndrome


  • Cervicobrachial syndrome

    Sorry, no description available

  • Cervicovaginal disease

    Sorry, no description available

  • Chalazion

    Sorry, no description available

  • Char syndrome

    Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.


    Fonte: http://www.orpha.net

  • Charcot-marie-tooth disease

    Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.


    Fonte: https://ghr.nlm.nih.gov/condition/charcot-marie-tooth-disease

  • Chédiak-higashi syndrome

    Sorry, no description available

  • Chemotherapy

    Sorry, no description available

  • Cherry haemangioma

    Sorry, no description available

  • Chest cat

    Sorry, no description available

  • Chest drainage

    Sorry, no description available

  • Chest mri

    Sorry, no description available

  • Chest x-ray

    Sorry, no description available

  • Chest x-ray

    Sorry, no description available

  • Chiari malformation

    Sorry, no description available

  • Chikungunya virus


    Chikungunya virus is transmitted to people by mosquitoes. The most common symptoms of chikungunya virus infection are fever and joint pain. Other symptoms may include headache, muscle pain, joint swelling, or rash. Outbreaks have occurred in countries in Africa, Asia, Europe, and the Indian and Pacific Oceans. In late 2013, chikungunya virus was found for the first time in the Americas on islands in the Caribbean. There is a risk that the virus will be imported to new areas by infected travelers. There is no vaccine to prevent or medicine to treat chikungunya virus infection. Travelers can protect themselves by preventingmosquito bites. When traveling to countries with chikungunya virus, use insect repellent, wear long sleeves and pants, and stay in places with air conditioning or that use window and door screens.


    Fonte: https://www.cdc.gov/chikungunya/index.html


  • Child dysphonia

    Sorry, no description available

  • Child psychiatry

    Sorry, no description available

  • Child psychosis

    Sorry, no description available

  • Childhood obesity

    Sorry, no description available

  • Chlamydia testing

    Sorry, no description available

  • Choanal atresia

    Sorry, no description available

  • Cholangiocarcinoma

    Sorry, no description available

  • Cholangiography

    Sorry, no description available

  • Cholecystography

    Sorry, no description available

  • Choledochal cysts

    Sorry, no description available

  • Cholera


    Cholera is an infectious disease that causes severe watery diarrhea, which can lead to dehydration and even death if untreated. It is caused by eating food or drinking water contaminated with a bacterium called Vibrio cholerae.


    Fonte: http://www.webmd.com/a-to-z-guides/cholera-faq#1


  • Cholesteatoma

    Sorry, no description available

  • Chondral injuriesof the tibiotarsal joint

    Sorry, no description available

  • Chondrome


  • Chondropathies

    Sorry, no description available

  • Chondrosarcoma


    Chondrosarcoma is a rare type of cancer called a sarcoma, which develops in the bones and soft tissues of the body. Most chondrosarcomas begin in the bones. A small number develop in the soft tissues away from bones (extraskeletal chondrosarcomas). Many chondrosarcomas are low-grade tumors that grow slowly and rarely spread (metastasize) to other areas of the body. However, some chondrosarcomas are intermediate- and high-grade tumors that behave more aggressively. Chondrosarcomas often affect middle-aged and older adults. They most commonly occur in the pelvis or thigh (femur) bones.


    Fonte: http://www.mayoclinic.org/diseases-conditions/chondrosarcoma/home/ovc-20230289


  • Chordoma


    Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.


    Fonte: Orphanet

  • Choriocarcinoma

    Sorry, no description available

  • Chorionic villus sampling

    Sorry, no description available

  • Chorioretinal dystrophies

    Sorry, no description available

  • Chorioretinitis

    Sorry, no description available

  • Chromocystoscopy

    Sorry, no description available

  • Chromosome abnormalities

    Sorry, no description available

  • Chromosomopathy screening

    Sorry, no description available

  • Chronic acute bronchitis

    Sorry, no description available

  • Chronic allergic rhinosinusitis

    Sorry, no description available

  • Chronic arterial diseases

    Sorry, no description available

  • Chronic asthma

    Sorry, no description available

  • Chronic atypical neutrophilic dermatosis

    Sorry, no description available

  • Chronic bronchitis

    Sorry, no description available

  • Chronic central pain

    Sorry, no description available

  • Chronic cluster headache


    Cluster headaches are a series of relatively short but extremely painful headaches every day for weeks or months at a time. You tend to get them at the same time each year, such as the spring or fall. Because of their seasonal nature, people often mistake cluster headaches for symptoms of allergies or business stress.

    We don't know what causes them, but we do know that a nerve in your face is involved, creating intense pain around one of your eyes. It's so bad that most people can't sit still and will often pace during an attack. Cluster headaches can be more severe than a migraine, but they usually don't last as long.

    These are the least common type of headaches, affecting less than 1 in 1,000 people. Men get them more than women do. You usually start getting them before you're age 30. Cluster headaches may disappear completely (go into remission) for months or years, but they can come back without any warning.


    Fonte: http://www.webmd.com/migraines-headaches/guide/cluster-headaches#1


  • Chronic conjunctivitis

    Sorry, no description available

  • Chronic constipation

    Sorry, no description available

  • Chronic constipation in dolichocolon

    Sorry, no description available

  • Chronic dermatosis

    Sorry, no description available

  • Chronic dysventilation

    Sorry, no description available

  • Chronic gastritis

    Sorry, no description available

  • Chronic granulomatous disease

    Sorry, no description available

  • Chronic hepatitis

    Sorry, no description available

  • Chronic hepatopathy

    Sorry, no description available

  • Chronic histiocytosis

    Chronic histiocytosis is the general term for the abnormal appearance of histiocytes in the blood. Based on the pathological features of the cells involved rather than on clinical findings, the histiocytic diseases are subdivided into three groups: histiocytosis, Langerhans cell; histiocytosis, non-Langerhans cell; and histiocytic disorders, malignant.

  • Chronic hyperglycemia

    Sorry, no description available

  • Chronic inflammatory bowel disease

    Sorry, no description available

  • Chronic inflammatory bowel diseases

    Sorry, no description available

  • Chronic inflammatory demyelinating polyneuropathy

    Sorry, no description available

  • Chronic intestinal disease

    Sorry, no description available

  • Chronic intestinal pseudo-obstruction

    Sorry, no description available

  • Chronic ischemic cardiopathy

    Sorry, no description available

  • Chronic kidney failure

    Sorry, no description available

  • Chronic leukaemia

    Sorry, no description available

  • Chronic lymphocytic leukaemia

    Sorry, no description available

  • Chronic musculoskeletal pain

    Sorry, no description available

  • Chronic myeloid leukaemia

    Sorry, no description available

  • Chronic myeloid leukaemia

    Sorry, no description available

  • Chronic obstructive pulmonary disease

    Sorry, no description available

  • Chronic pain

    Sorry, no description available

  • Chronic pain

    Sorry, no description available

  • Chronic pancreatitis

    Sorry, no description available

  • Chronic pelvic pain

    Sorry, no description available

  • Chronic peripheral occlusive arterial disease

    Sorry, no description available

  • Chronic postoperative neuralgia

    Sorry, no description available

  • Chronic pruritus

    Sorry, no description available

  • Chronic pulmonary heart disease

    Sorry, no description available

  • Chronic pulmonary hypertension

    Sorry, no description available

  • Chronic respiratory diseases

    Sorry, no description available

  • Chronic respiratory failure

    Sorry, no description available

  • Chronic sinusitis

    Sorry, no description available

  • Chronic thromboembolic pulmonary hypertension

    Sorry, no description available

  • Chronic tonsillitis

    Sorry, no description available

  • Chronic venous insufficiency

    Sorry, no description available

  • Churg-strauss syndrome

    Eosinophilic granulomatosis with polyangiitis (EGPA), previously known as Churg-Strauss syndrome, is a systemic vasculitis of small-to medium vessels, characterized by asthma, transient pulmonary infiltrates, and hypereosinophilia.


    Fonte: http://www.orpha.net

  • Cicatricial pemphigoid

    Sorry, no description available

  • Cirrhosis

    Sorry, no description available

  • Cleft lip and palate

    Sorry, no description available

  • Clinical chemical analysis laboratory

    Sorry, no description available

  • Clinical neurogenetics

    Sorry, no description available

  • Clinical neurophysiology

    Sorry, no description available

  • Clinical pharmacology

    Sorry, no description available

  • Clinical psychology

    Sorry, no description available

  • Clinodactyly

    Sorry, no description available

  • Clostridium perfringens food poisoning

    People infected with clostridium perfringens develop diarrhea and abdominal cramps within 6 to 24 hours (typically 8 to 12 hours). The illness usually begins suddenly and lasts for less than 24 hours.  People infected usually do not have fever or vomiting. The illness is not passed from one person to another.



    Fonte: https://www.cdc.gov/foodsafety/diseases/clostridium-perfringens.html


  • Clove syndrome

    CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.


    Fonte: http://www.orpha.net

  • Club foot

    Sorry, no description available

  • Club foot / talipes equinovarus (child and adult)

    Sorry, no description available

  • Co diffusion test

    Sorry, no description available

  • Cochlear implants

    Sorry, no description available

  • Cockayne syndrome

    Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.


    Fonte: http://www.orpha.net

  • Codas syndrome

    CODAS syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.


    Fonte: http://www.orpha.net

  • Coeliac disease

    Sorry, no description available

  • Coffin-lowry syndrome

    Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.


    Fonte: http://www.orpha.net

  • Coffin-siris syndrome

    Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.


    Fonte: http://www.orpha.net

  • Cogan syndrome

    Sorry, no description available

  • Cognitive deficit

    Sorry, no description available

  • Cognitive disorders

    Sorry, no description available

  • Cognitive efficiency test

    Sorry, no description available

  • Cognitive evoked potential

    Sorry, no description available

  • Cognitive impairment

    Sorry, no description available

  • Cognitive rehabilitation

    Sorry, no description available

  • Cohen syndrome

    Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.


    Fonte: http://www.orpha.net

  • Colitis

    Sorry, no description available

  • Colloid cyst of the third ventricle

    Sorry, no description available

  • Colobomas

    Sorry, no description available

  • Colon and rectal cancer surgery

    Sorry, no description available

  • Colon tumour

    Sorry, no description available

  • Colonoscopy

    Sorry, no description available

  • Colonoscopy with biopsy

    Sorry, no description available

  • Color doppler ultrasound of the abdominal aorta

    Sorry, no description available

  • Color doppler ultrasound of the normal testis

    Sorry, no description available

  • Colorectal cancer screening

    Sorry, no description available

  • Colorectal neoplasia

    Sorry, no description available

  • Colorectal surgery

    Sorry, no description available

  • Colour blindness test

    Sorry, no description available

  • Colpography

    Sorry, no description available

  • Colposacropexy

    Sorry, no description available

  • Colposcopy

    Sorry, no description available

  • Colposcopy and cervical biopsy

    Sorry, no description available

  • Coma

    Sorry, no description available

  • Combined factor v and factor viii deficiency

    Sorry, no description available

  • Combined malformations

    Sorry, no description available

  • Combined subjective-genital arousal disorder

    Sorry, no description available

  • Complement deficiency

    Sorry, no description available

  • Complex abdominal wall hernias

    Sorry, no description available

  • Complex angiomatosis

    Sorry, no description available

  • Complex arrhythmias

    Sorry, no description available

  • Complex congenital cardiopathy

    Sorry, no description available

  • Complex inguinal hernias

    Sorry, no description available

  • Complex joint fractures

    Sorry, no description available

  • Complex lymphatic malformations

    Sorry, no description available

  • Complex regional pain syndrome

    Sorry, no description available

  • Complications of foot and ankle surgery

    Sorry, no description available

  • Complications of trauma

    Sorry, no description available

  • Cone rod dystrophies


    Cone rod dystrophies (CRDs) (prevalence 1/40,000) are inherited retinal dystrophies that belong to the group of pigmentary retinopathies. CRDs are characterized by retinal pigment deposits visible on fundus examination, predominantly localized to the macular region. In contrast to typical retinitis pigmentosa (RP), also called the rod cone dystrophies (RCDs) resulting from the primary loss in rod photoreceptors and later followed by the secondary loss in cone photoreceptors, CRDs reflect the opposite sequence of events. CRD is characterized by primary cone involvement, or, sometimes, by concomitant loss of both cones and rods that explains the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. The clinical course of CRDs is generally more severe and rapid than that of RCDs, leading to earlier legal blindness and disability. 


    Fonte: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1808442/


  • Congenital aceruloplasminemia

    Sorry, no description available

  • Congenital adrenal hyperplasia

    Sorry, no description available

  • Congenital adrenogenital syndromes

    Sorry, no description available

  • Congenital alpha 1 antitrypsin deficiency

    Sorry, no description available

  • Congenital alterations in lipoprotein metabolism


    Lipoprotein metabolism is the process by which hydrophobic lipids, namely triglycerides and cholesterol, are transported within the interstitial fluid and plasma. It includes the transport of energy in the form of triglycerides from intestine and liver to muscles and adipose, as well as the transport of cholesterol both from intestine and liver to peripheral tissues, as well as from peripheral tissues back to the liver.

  • Congenital ataxia

    Sorry, no description available

  • Congenital atransferrinemia

    Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.


    Fonte: http://www.orpha.net

  • Congenital biliary diseases

    Sorry, no description available

  • Congenital brain defects

    Sorry, no description available

  • Congenital cardiopathy

    Sorry, no description available

  • Congenital cataracts

    Sorry, no description available

  • Congenital coagulopathies

    Sorry, no description available

  • Congenital deformity

    Sorry, no description available

  • Congenital diseases

    Sorry, no description available

  • Congenital disorders in the adult

    Sorry, no description available

  • Congenital dyserythropoietic anaemia

    Sorry, no description available

  • Congenital fiber-type disproportion myopathy

    Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.


    Fonte: http://www.orpha.net

  • Congenital giant nevi

    Sorry, no description available

  • Congenital hearing loss

    Sorry, no description available

  • Congenital heart disease

    Sorry, no description available

  • Congenital heart disease in adults

    Sorry, no description available

  • Congenital hemeralopia

    Sorry, no description available

  • Congenital hepatic fibrosis

    Sorry, no description available

  • Congenital hyperthyroidism

    Sorry, no description available

  • Congenital hypothyroidism

    Sorry, no description available

  • Congenital immunodeficiency

    Sorry, no description available

  • Congenital lobar emphysema

    Sorry, no description available

  • Congenital malformations

    Sorry, no description available

  • Congenital muscular dystrophy (cmd)


    Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent at or near birth. Muscular dystrophies in general are genetic, degenerative diseases primarily affecting voluntary muscles. CMD results in overall muscle weakness with possible joint stiffness or looseness. Depending on the type, CMD may involve spinal curvature, respiratory insufficiency, intellectual disabilities, learning disabilities, eye defects or seizures. For more, see Types of CMD and Signs and Symptoms.


    Fonte: https://www.mda.org/disease/congenital-muscular-dystrophy


  • Congenital myopathies

    Sorry, no description available

  • Congenital myopathy

    Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy.


    Fonte: https://www.ninds.nih.gov/Disorders/All-Disorders/Congenital-Myopathy-Information-Page

  • Congenital neutropenia

    Sorry, no description available

  • Congenital pulmonary atelectasis

    Sorry, no description available

  • Congenital zinc deficiency

    Sorry, no description available

  • Congestive heart failure

    Sorry, no description available

  • Conjunctival biopsy

    Sorry, no description available

  • Conjunctival neoplasia

    Sorry, no description available

  • Conjunctival scarring

    Sorry, no description available

  • Conjunctivitis

    Sorry, no description available

  • Conn's syndrome

    Sorry, no description available

  • Connective tissue disease

    Sorry, no description available

  • Conservative surgery

    Sorry, no description available

  • Consolidation with misalignment

    Sorry, no description available

  • Constipation

    Sorry, no description available

  • Contact dermatitis

    Sorry, no description available

  • Continuous ambulatory peritoneal dialysis (capd) and automated peritoneal dialysis (apd)

    Sorry, no description available

  • Contractures

    Sorry, no description available

  • Contrast echocardiography

    Sorry, no description available

  • Contrast sensitivity test

    Sorry, no description available

  • Controlled breathing exercises

    Sorry, no description available

  • Contusions

    Sorry, no description available

  • Coordinative physiotherapy

    Sorry, no description available

  • Cornea transplant

    Sorry, no description available

  • Corneal degeneration

    Sorry, no description available

  • Corneal degenerations and dystrophies

    Sorry, no description available

  • Corneal dystrophy


    Corneal dystrophies are a group of genetic, often progressive, eye disorders in which abnormal material often accumulates in the clear (transparent) outer layer of the eye (cornea). Corneal dystrophies may not cause symptoms (asymptomatic) in some individuals; in others they may cause significant vision impairment. The age of onset and specific symptoms vary among the different forms of corneal dystrophy. The disorders have some similar characteristics; most forms of corneal dystrophy affect both eyes (bilateral), progress slowly, do not affect other areas of the body, and tend to run in families. Most forms are inherited as autosomal dominant traits; a few are inherited as autosomal recessive traits.


    Fonte: https://www.cornealdystrophyfoundation.org/what-is-corneal-dystrophy


  • Corneal endothelial microscopy

    Sorry, no description available

  • Corneal pachimetry

    Sorry, no description available

  • Corneal surgery

    Sorry, no description available

  • Corneal topography

    Sorry, no description available

  • Cornelia de lange syndrome

    Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).


    Fonte: http://www.orpha.net

  • Corns

    Sorry, no description available

  • Coronaropathy

    Sorry, no description available

  • Coronary and peripheral arterial disease

    Sorry, no description available

  • Coronary angioplasty and stent placement

    Sorry, no description available

  • Coronary angioplasty with myocardial infarction

    Sorry, no description available

  • Coronary arteriography

    Sorry, no description available

  • Coronary artery bypass

    Sorry, no description available

  • Coronary cardiopathy

    Sorry, no description available

  • Coronary care unit

    Sorry, no description available

  • Coronary catheterization

    Sorry, no description available

  • Coronary disease

    Sorry, no description available

  • Coronary surgery

    Sorry, no description available

  • Corticobasal degeneration

    Sorry, no description available

  • Cosmetic surgery

    Sorry, no description available

  • Costello syndrome

    Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.


    Fonte: http://www.orpha.net

  • Cranial nerve palsy

    Sorry, no description available

  • Cranial telly radiography

    Sorry, no description available

  • Cranial trauma

    Sorry, no description available

  • Craniofacial dysmorphism

    Sorry, no description available

  • Craniopharyngiomas

    Sorry, no description available

  • Craniostenosis

    Sorry, no description available

  • Craniosynostosis

    Sorry, no description available

  • Craniotomy

    Sorry, no description available

  • Crest syndrome

    Sorry, no description available

  • Cri du chat syndrome

    Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.


    Fonte: http://www.orpha.net

  • Crigler–najjar syndrome

    Sorry, no description available

  • Critical limb ischaemia

    Sorry, no description available

  • Crohn’s disease

    Sorry, no description available

  • Cronkhite-canada syndrome

    Sorry, no description available

  • Crouzon syndrome

    Sorry, no description available

  • Crural hernia

    Sorry, no description available

  • Cryoglobulinemia

    Sorry, no description available

  • Cryopyrinopathies

    Sorry, no description available

  • Cryotherapy

    Sorry, no description available

  • Cryotherapy

    Sorry, no description available

  • Cryptogenic epilepsy

    Sorry, no description available

  • Cryptorchidism

    Sorry, no description available

  • Crystal arthritis

    Sorry, no description available

  • Ct

    Sorry, no description available

  • Ct scan of joints

    Sorry, no description available

  • Cta of the lower extremities

    Sorry, no description available

  • Cta of the upper extremities

    Sorry, no description available

  • Cubital tunnel syndrome

    Sorry, no description available

  • Cushing's syndrome

    Sorry, no description available

  • Cutaneous injuries

    Sorry, no description available

  • Cutaneous neoplasia

    Sorry, no description available

  • Cutaneous ulcerative disease

    Sorry, no description available

  • Cutaneous ulcers

    Sorry, no description available

  • Cyclic neutropenia

    Sorry, no description available

  • Cyclitis

    Sorry, no description available

  • Cystadenoma of the liver

    Sorry, no description available

  • Cystectomy

    Sorry, no description available

  • Cystic adenomatoid malformation

    Sorry, no description available

  • Cystic fibrosis

    Cystic fibrosis is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.

    In people with CF, a defective gene causes a thick, sticky buildup of mucus in the lungs, pancreas, and other organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive lung damage, and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.



    Fonte: https://www.cff.org

  • Cystic fibrosis hepatopathy

    Sorry, no description available

  • Cystic fibrosis testing

    Sorry, no description available

  • Cystic tumours

    Sorry, no description available

  • Cystinosis

    Sorry, no description available

  • Cystinuria

    Sorry, no description available

  • Cystitis

    Sorry, no description available

  • Cystography

    Sorry, no description available

  • Cystoscopy

    Sorry, no description available

  • Cysts

    Sorry, no description available

  • Cytological evaluation of nasal mucosa

    Sorry, no description available

  • Cytomegalovirus

    Sorry, no description available

  • Cytoreductive surgery

    Sorry, no description available

  • D

  • Darier's disease

    Sorry, no description available

  • Daytime sleepiness

    Sorry, no description available

  • De quervain syndrome

    Sorry, no description available

  • Decompensated heart failure

    Sorry, no description available

  • Deep and superficial venous insufficiency of the lower limbs

    Sorry, no description available

  • Deep vein thrombosis

    Sorry, no description available

  • Defecography

    Sorry, no description available

  • Degenerative arthrosis

    Sorry, no description available

  • Degenerative brain diseases

    Sorry, no description available

  • Degenerative disc disease

    Sorry, no description available

  • Delayed ejaculation and anejaculation

    Sorry, no description available

  • Delayed growth

    Sorry, no description available

  • Delayed puberty

    Sorry, no description available

  • Delusional disorder

    Sorry, no description available

  • Dementia

    Sorry, no description available

  • Dementia with lewy bodies

    Sorry, no description available

  • Demolition and reconstructive surgery

    Sorry, no description available

  • Demyelinating and dysimmune optic neuritis

    Sorry, no description available

  • Demyelinating diseases

    Sorry, no description available

  • Dengue

    Sorry, no description available

  • Dent disease

    Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.


    Fonte: http://www.orpha.net

  • Dentatorubral-pallidoluysian atrophy

    Sorry, no description available

  • Dentistry

    Sorry, no description available

  • Denys-drash syndrome

    Denys-Drash syndrome (DDS) is a rare urogenital disorder characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma.


    Fonte: http://www.orpha.net

  • Dependencies

    Sorry, no description available

  • Depression

    Sorry, no description available

  • Dercum's disease

    Sorry, no description available

  • Dermal sinus tracts

    Sorry, no description available

  • Dermatitis

    Sorry, no description available

  • Dermatitis herpetiformis


    Dermatitis herpetiformis, also known as DH and Duhring’s disease, is a skin manifestation of non-celiac wheat sensitivity. Extremely itchy bumps or blisters appear on both sides of the body, most often on the forearms near the elbows, as well as on knees and buttocks, and along the hairline.

  • Dermatofibroma

    Sorry, no description available

  • Dermatological screening 

    Sorry, no description available

  • Dermatology

    Dermatology is the branch of medicine dealing with the skin, nails, hair and its diseases. It is a specialty with both medical and surgical aspects. A dermatologist treats diseases, in the widest sense, and some cosmetic problems of the skin, scalp, hair, and nails.

  • Dermatomicosis

    Sorry, no description available

  • Dermatomyositis

    Sorry, no description available

  • Dermatophytosis

    Dermatophytosis is a common contagious disease caused by fungi known as dermatophytes. Dermatophytes belong to a group of organisms that are able to break down the keratin in tissues such as the epidermis, hair, nails, feathers, horns and hooves. Most of these fungi reside in the soil and are involved in decomposition; however, the dermatophytes can infect living hosts. Some dermatophytes (anthropophilic species) are adapted to humans, and are usually transmitted from person to person. Others (zoophilic species) are adapted to animals. A few (geophilic) species normally live in the environment, but occasionally act as parasites. The zoophilic and geophilic species are sometimes transmitted from animals to people. It is also possible for humans to transmit anthropophilic dermatophytes to animals, although this seems to be uncommon.

    In living hosts, dermatophytes usually remain in superficial tissues such as the epidermis, hair and nails. Serious consequences are uncommon and infections can be self-limiting. However, the illness may be disfiguring and uncomfortable, especially when the lesions are widespread. Economic effects, such as damage to hides, are also important in livestock. Infrequently, dermatophytes may invade subcutaneous tissues and (very rarely) other sites, especially in immunocompromised hosts. 


    Fonte: http://www.cfsph.iastate.edu/Factsheets/pdfs/dermatophytosis.pdf


  • Dermatoscopy

    Sorry, no description available

  • Dermatosis

    Sorry, no description available

  • Desbuquois syndrome

    Desbuquois syndrome (DBQD) is an osteochondrodysplasia characterized by severe micromelic dwarfism, facial dysmorphism, joint laxity with multiple dislocations, vertebral and metaphyseal abnormalities and advanced carpotarsal ossification. Two forms have been distinguished on the basis of the presence (type 1) or the absence (type 2) of characteristic hand anomalies. A variant form of DBQD, Kim variant, has also been described and is characterized by short stature and articular, minor facial and significant hand anomalies.


    Fonte: http://www.orpha.net

  • Descending aortography

    Sorry, no description available

  • Detrusor hyperactivity

    Sorry, no description available

  • Developmental dyslexia

    Sorry, no description available

  • Developmental psychopathology

    Sorry, no description available

  • Diabetes

    Sorry, no description available

  • Diabetes center

    Sorry, no description available

  • Diabetes insipidus

    Sorry, no description available

  • Diabetes mellitus

    Sorry, no description available

  • Diabetes mellitus in adolescents

    Sorry, no description available

  • Diabetes mellitus in children

    Sorry, no description available

  • Diabetes mellitus type 1

    Sorry, no description available

  • Diabetes mellitus type 2

    Sorry, no description available

  • Diabetic and non-diabetic ulcers

    Sorry, no description available

  • Diabetic arterial disease

    Sorry, no description available

  • Diabetic foot

    Sorry, no description available

  • Diabetic foot treatment clinic

    Sorry, no description available

  • Diabetic ketoacidosis

    Sorry, no description available

  • Diabetic nephropathy

    Sorry, no description available

  • Diabetic neuropathy

    Sorry, no description available

  • Diabetic retinopathy

    Sorry, no description available

  • Diabetology

    Sorry, no description available

  • Diagnosis and treatment of the median arcuate ligament syndrome

    Sorry, no description available

  • Diagnostic imaging

    Sorry, no description available

  • Diagnostic senology

    Sorry, no description available

  • Diagnostic videothoracoscopy

    Sorry, no description available

  • Diagnostics for oncology

    Sorry, no description available

  • Dialysis

    Sorry, no description available

  • Diaphragm disorders

    Sorry, no description available

  • Diaphragm paralysis

    Sorry, no description available

  • Diaphragmatic hernias

    Sorry, no description available

  • Diarrhoea

    Sorry, no description available

  • Diastasis recti

    Sorry, no description available

  • Dietology

    Sorry, no description available

  • Diffuse and limited systemic sclerosis

    Sorry, no description available

  • Diffuse interstitial lung diseases

    Sorry, no description available

  • Digestive endoscopy

    Sorry, no description available

  • Digestive system neoplasia

    Sorry, no description available

  • Digestive system surgery

    Sorry, no description available

  • Digestive tract tumours

    Sorry, no description available

  • Digital dermoscopy mapping

    Sorry, no description available

  • Dilated cardiomyopathy

    Sorry, no description available

  • Dilated cardiopathy

    Sorry, no description available

  • Diphtheria


    Diphtheria is a serious bacterial infection usually affecting the mucous membranes of your nose and throat. Diphtheria typically causes a sore throat, fever, swollen glands and weakness. But the hallmark sign is a sheet of thick, gray material covering the back of your throat, which can block your airway, causing you to struggle for breath. Diphtheria is extremely rare in the United States and other developed countries, thanks to widespread vaccination against the disease. Medications are available to treat diphtheria. However, in advanced stages, diphtheria can damage your heart, kidneys and nervous system. Even with treatment, diphtheria can be deadly — up to 3 percent of people who get diphtheria die of it. The rate is higher for children under 15.


    Fonte: Mayo Clinic

  • Disc hernias

    Sorry, no description available

  • Diseases of the external genitalia

    Sorry, no description available

  • Dislocation of the hip

    Sorry, no description available

  • Dislocation of the patella

    Sorry, no description available

  • Dislocations

    Sorry, no description available

  • Disorders of carbohydrate metabolism and glucose transport

    Carbohydrates are one of the most important sources of energy in the human organism. Within the body, glucose is the most abundant monosaccharide which can be stored as glycogen, a branched polymer, in liver and muscle. Inborn errors of metabolism may affect the uptake, distribution and reabsorption of monosaccharides in different organs, a process which is meticulously regulated by a system of transporter proteins. Congenital disorders may impair the conversion of other monosaccharides (fructose, galactose) into glucose. They can further affect glycogen formation, glycogen breakdown (glycogenolysis), glucose metabolism to acetyl-CoA (glycolysis) and de novo synthesis of glucose from glucoplastic amino acids or from lactate (gluconeogenesis).

    Glucose transport disorders present with a very variable clinical picture depending on which of the organ- and substrate-specific transporters are affected. This group of disorders includes intestinal glucose-galactose malabsorption, renal glucosuria, glucose transporter-1 deficiency of the blood-brain barrier and Fanconi-Bickel syndrome (a disease with hepatic glycogen storage and massive renal tubular malabsorption of glucose and other substances).

    Disorders of fructose and galactose metabolism affect different organs because of the accumulation of toxic intermediates. After these monosaccharides have been introduced with the diet, symptoms secondary to impaired liver function are frequently the first signs.

    Glycogen storage diseases can be divided into those mainly presenting with hepatic manifestations (hepatomegaly, hypoglycaemia) and those with muscular presentations (exertion intolerance, rhabdomyolysis). Some show a combination of these symptoms, cardiomyopathy may be an additional feature, and further accompanying symptoms, e.g.haemolytic anaemia, may be observed depending on the tissue distribution of the affected protein.


    Fonte: https://link.springer.com/chapter/10.1007%2F978-3-642-40337-8_18


  • Disorders of purine and pyrimidine metabolism

    Sorry, no description available

  • Dissociative disorders

    Sorry, no description available

  • Distal hereditary motor neuropathy, type ii

    Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.


    Fonte: https://ghr.nlm.nih.gov/condition/distal-hereditary-motor-neuropathy-type-ii

  • Distal muscular dystrophy (dd)


    First described in 1902, the Distal muscular dystrophy (DD) is a class of muscular dystrophies that primarily affect distal muscles, which are those of the lower arms, hands, lower legs and feet. Muscular dystrophies in general are a group of genetic, degenerative diseases primarily affecting voluntary muscles. Types of distal muscular dystrophy include: distal myopathy with vocal cord and pharyngeal weakness; Finnish (tibial) distal myopathy; Gowers-Laing distal myopathy; hereditary inclusion-body myositis type 1; Miyoshi distal myopathy; Nonaka distal myopathy; Welander’s distal myopathy; and ZASP-related myopathy. Distal muscular dystrophy can lead to weakness and wasting of muscles of the hands, forearms and lower legs.


    Fonte: https://www.mda.org/disease/distal-muscular-dystrophy


  • Distortions

    Sorry, no description available

  • Diverticular disease

    Sorry, no description available

  • Diverticulitis


    Diverticula are small, bulging pouches that can form in the lining of your digestive system. They are found most often in the lower part of the large intestine (colon). Diverticula are common, especially after age 40, and seldom cause problems. Sometimes, however, one or more of the pouches become inflamed or infected. That condition is known as diverticulitis. Diverticulitis can cause severe abdominal pain, fever, nausea and a marked change in your bowel habits. Mild diverticulitis can be treated with rest, changes in your diet and antibiotics. Severe or recurring diverticulitis may require surgery.


    Fonte: Mayo Clinic

  • Diverticulosis

    Sorry, no description available

  • Diverticulosis/diverticulitis

    Sorry, no description available

  • Dna and rna extraction

    Sorry, no description available

  • Dna mutation analysis

    Sorry, no description available

  • Doppler and color doppler ultrasound

    Sorry, no description available

  • Doppler echocardiography

    Sorry, no description available

  • Doppler ultrasound of carotid arteries

    Sorry, no description available

  • Doppler ultrasound of renal arteries

    Sorry, no description available

  • Doppler ultrasound of the lower limbs

    Sorry, no description available

  • Dorsal disc herniation

    Sorry, no description available

  • Dorsal pain

    Sorry, no description available

  • Dorsalgia

    Sorry, no description available

  • Double breast mri

    Sorry, no description available

  • Down's syndrome

    Sorry, no description available

  • Drainage massage

    Sorry, no description available

  • Dravet syndrome

    Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.


    Fonte: http://www.orpha.net

  • Dress syndrome

    Sorry, no description available

  • Drug

    Sorry, no description available

  • Drug-eluting stent

    Sorry, no description available

  • Drugs tests

    Sorry, no description available

  • Dual-energy x-ray absorptiometry

    Sorry, no description available

  • Dubowitz syndrome

    Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.


    Fonte: http://www.orpha.net

  • Duchenne muscular dystrophies


    Muscular dystrophies are a group of genetic conditions characterized by progressive muscle weakness and wasting (atrophy). The Duchenne and Becker types of muscular dystrophy are two related conditions that primarily affect skeletal muscles, which are used for movement, and heart (cardiac) muscle. These forms of muscular dystrophy occur almost exclusively in males.

    Duchenne and Becker muscular dystrophies have similar signs and symptoms and are caused by different mutations in the same gene. The two conditions differ in their severity, age of onset, and rate of progression. In boys with Duchenne muscular dystrophy, muscle weakness tends to appear in early childhood and worsen rapidly. Affected children may have delayed motor skills, such as sitting, standing, and walking. They are usually wheelchair-dependent by adolescence. The signs and symptoms of Becker muscular dystrophy are usually milder and more varied. In most cases, muscle weakness becomes apparent later in childhood or in adolescence and worsens at a much slower rate.

    Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. These heart problems worsen rapidly and become life-threatening in most cases. Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond.

    A related condition called X-linked dilated cardiomyopathy is a form of heart disease caused by mutations in the same gene as Duchenne and Becker muscular dystrophy, and it is sometimes classified as subclinical Becker muscular dystrophy. People with X-linked dilated cardiomyopathytypically do not have any skeletal muscle weakness or wasting, although they may have subtle changes in their skeletal muscle cells that are detectable through laboratory testing.


    Fonte: https://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy

  • Duct defects

    Sorry, no description available

  • Duodenal atresia

    Sorry, no description available

  • Duodenal tumour

    Sorry, no description available

  • Duodenal ulcer

    Sorry, no description available

  • Dupuytren's contracture

    Sorry, no description available

  • Dural fistulas

    Sorry, no description available

  • Dwarfism

    Sorry, no description available

  • Dyggve-melchior-clausen disease

    Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias. 


    Fonte: http://www.orpha.net

  • Dysarthria

    Sorry, no description available

  • Dysautonomia

    Sorry, no description available

  • Dyscromia

    Sorry, no description available

  • Dysfibrinogenemia

    Sorry, no description available

  • Dysimmune peripheral neuropathies

    Sorry, no description available

  • Dyskeratosis

    Sorry, no description available

  • Dyslexia

    Sorry, no description available

  • Dyslipidemia

    Sorry, no description available

  • Dysmorphism

    Sorry, no description available

  • Dyspareunia

    Sorry, no description available

  • Dyspepsia

    Sorry, no description available

  • Dysphagia

    Sorry, no description available

  • Dysphonia

    Sorry, no description available

  • Dysregulated hypothalamic–pituitary–adrenal axis

    Sorry, no description available

  • Dystonia

    Sorry, no description available

  • Dystrophic epidermolysis bullosa

    Dystrophic epidermolysis bullosa (DEB) is a form of inherited epidermolysis bullosa (EB) characterized by cutaneous and mucosal fragility resulting in blisters and superficial ulcerations that develop below the lamina densa of the cutaneous basement membrane and that heal with significant scarring and milia formation. It comprises ten sub-types with the three most common being generalized dominant DEB (DDEB), severe generalized recessive DEB (RDEB- sev gen) and RDEB generalized-other.


    Fonte: http://www.orpha.net


  • Dystrophic ulcers

    Sorry, no description available

  • Dystrophy

    Sorry, no description available

  • E

  • Eales disease

    Sorry, no description available

  • Ear cat

    Sorry, no description available

  • Eastern equine encephalitis virus


    Eastern equine encephalitis virus (EEEV) is transmitted to humans by the bite of an infected mosquito. Eastern equine encephalitis (EEE) is a rare illness in humans, and only a few cases are reported in the United States each year. Most cases occur in the Atlantic and Gulf Coast states (see map). Most persons infected with EEEV have no apparent illness. Severe cases of EEE (involving encephalitis, an inflammation of the brain) begin with the sudden onset of headache, high fever, chills, and vomiting. The illness may then progress into disorientation, seizures, or coma. EEE is one of the most severe mosquito-transmitted diseases in the United States with approximately 33% mortality and significant brain damage in most survivors. There is no specific treatment for EEE; care is based on symptoms. You can reduce your risk of being infected with EEEV by using insect repellent, wearing protective clothing, and staying indoors while mosquitoes are most active. If you think you or a family member may have EEE, it is important to consult your healthcare provider for proper diagnosis.


    Fonte: https://www.cdc.gov/easternequineencephalitis/index.html


  • Eating disorder center

    Sorry, no description available

  • Eating disorders

    Sorry, no description available

  • Ebola virus disease


    Ebola virus disease (EVD), also known as Ebola hemorrhagic fever (EHF) or simply Ebola, is a viral hemorrhagic fever of humans and other primates caused by ebolaviruses.

  • Echinococcosis

    Sorry, no description available

  • Echinococcus cysts

    Sorry, no description available

  • Echo-doppler of the supra-aortic vessels

    Sorry, no description available

  • Echo-endoscopy

    Sorry, no description available

  • Echocardiography

    Sorry, no description available

  • Ectasia

    Sorry, no description available

  • Ectopic tachycardia

    Sorry, no description available

  • Eczema

    Sorry, no description available

  • Eczema herpeticum


    Eczema herpeticum, also known as a form of Kaposi varicelliform eruption caused by viral infection, usually with the herpes simplex virus (HSV), is an extensive cutaneous vesicular eruption that arises from pre-existing skin disease, usually atopic dermatitis (AD). Children with AD have a higher risk of developing eczema herpeticum, in which HSV type 1 (HSV-1) is the most common pathogen.

    Eczema herpeticum can be severe, progressing to disseminated infection and death if untreated. Bacterial superinfection and bacteremia are usually the complications that cause mortality. We present a case in which eczema herpeticum was misdiagnosed as impetigo during a patient’s initial treatment. Detailed history taking and characteristic cutaneous findings can help clinicians make an accurate diagnosis.


    Fonte: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/


  • Effort electrocardiography

    Sorry, no description available

  • Ehlers–danlos syndrome

    Sorry, no description available

  • Elbow mri

    Sorry, no description available

  • Electrical cardioversion

    Sorry, no description available

  • Electrocardiograph abnormalities

    Sorry, no description available

  • Electrocardiography (ecg)

    Sorry, no description available

  • Electroencephalography

    Sorry, no description available

  • Electroencephalography

    Sorry, no description available

  • Electrolyte imbalance

    Sorry, no description available

  • Electromyography

    Sorry, no description available

  • Electroneurography

    Sorry, no description available

  • Electrophoresis

    Sorry, no description available

  • Electrophysiology

    Sorry, no description available

  • Electroretinography

    Sorry, no description available

  • Electrotherapy

    Sorry, no description available

  • Ellis-van creveld syndrome

    Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.


    Fonte: http://www.orpha.net

  • Emergency medicine

    Sorry, no description available

  • Emery-dreifuss muscular dystrophy


    Emery-Dreifuss muscular dystrophy is a condition that primarily affects muscles used for movement (skeletal muscles) and the heart (cardiac muscle). Among the earliest features of this disorder are joint deformities called contractures. Contractures restrict the movement of certain joints, most often the elbows, ankles, and neck, and usually become noticeable in early childhood. Most affected individuals also experience muscle weakness and wasting that worsen slowly over time, beginning in muscles of the upper arms and lower legs and later also affecting muscles in the shoulders and hips.

    Almost all people with Emery-Dreifuss muscular dystrophy develop heart problems by adulthood. In many cases, these heart problems are abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects) and abnormal heart rhythms (arrhythmias). If untreated, these abnormalities can lead to a sensation of fluttering or pounding in the chest (palpitations), an unusually slow heartbeat (bradycardia), fainting (syncope), heart failure, and an increased risk of sudden death.

    Researchers have identified several types of Emery-Dreifuss muscular dystrophy that are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive. The types usually have similar signs and symptoms, although a small percentage of people with the autosomal dominant form experience heart problems without any weakness or wasting of skeletal muscles.


    Fonte: https://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy


  • Empty sella

    Sorry, no description available

  • Empyema

    Sorry, no description available

  • Encephalocele

    Sorry, no description available

  • Encephalomeningocele

    Sorry, no description available

  • Encephalopathy

    Sorry, no description available

  • Endocarditis

    Sorry, no description available

  • Endocrine disorders

    Sorry, no description available

  • Endocrine disorders

    Sorry, no description available

  • Endocrine gland tumours

    Sorry, no description available

  • Endocrine hypertension

    Sorry, no description available

  • Endocrine surgery

    Sorry, no description available

  • Endocrine tumours

    Sorry, no description available

  • Endocrine, metabolic and nutritional disorders

    Sorry, no description available

  • Endocrinology

    Sorry, no description available

  • Endometrial biopsy

    Sorry, no description available

  • Endometrial cancer

    Sorry, no description available

  • Endometrial pathology

    Sorry, no description available

  • Endometriosis

    Sorry, no description available

  • Endometriosis surgery

    Sorry, no description available

  • Endometriosis treatment clinic

    Sorry, no description available

  • Endomyocardial biopsy

    Sorry, no description available

  • Endoscopic haemostasis

    Sorry, no description available

  • Endoscopic retrograde cholangiopancreatography (ercp)

    Sorry, no description available

  • Endoscopy and endoscopic ultrasound

    Sorry, no description available

  • Endovaginal sonography

    Sorry, no description available

  • Endovenous urography

    Sorry, no description available

  • Enteral nutrition

    Sorry, no description available

  • Enthesopathies

    Sorry, no description available

  • Entropion-ectropion

    Sorry, no description available

  • Enuresis

    Sorry, no description available

  • Eosinophilic gastroenteritis

    Eosinophilic gastroenteritis (EGE) is a rare benign gastrointestinal disease characterized by the presence of abnormal and nonspecific gastro-intestinal (GI) manifestations, associated with an eosinophilic infiltration of the GI tract, which can affect several segments and involve several layers within the GI wall.


    Fonte: http://www.orpha.net


  • Ependymoblastoma

    Ependymoblastoma is a rare type of primitive neuroectodermal tumor (PNET) that usually occurs in young children under the age of 2 and is histologically distinguished by the production of ependymoblastic rosettes. It is associated with an aggressive course and a poor prognosis.


    Fonte: http://www.orpha.net

  • Ependymoma

    Ependymomas are tumors that resemble normal ependymal cells and tend to occur along the surfaces of the ventricles. They may also occur in the parenchyma adjacent to the ventricle or anywhere along the entire length of the spinal canal and the filum terminale. Ependymomas are the third most common childhood brain tumor.


    Fonte: https://www.ncbi.nlm.nih.gov/books/NBK13559

  • Epicondylitis

    Sorry, no description available

  • Epicondylitis

    Sorry, no description available

  • Epidermolysis bullosa simplex

    Epidermolysis bullosa simplex (EBS) is a group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma.


    Fonte: http://www.orpha.net

  • Epididymal cysts

    Sorry, no description available

  • Epididymo-orchitis

    Sorry, no description available

  • Epidural anesthesia

    Sorry, no description available

  • Epigastric hernia

    Sorry, no description available

  • Epilepsy

    Sorry, no description available

  • Epilepsy center

    Sorry, no description available

  • Epileptic syndromes

    Sorry, no description available

  • Episcleritis

    Sorry, no description available

  • Epispadias

    Sorry, no description available

  • Epithelioma

    Sorry, no description available

  • Epodic ataxia


    Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin.

    Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause.


    Fonte: https://ghr.nlm.nih.gov/condition/episodic-ataxia

  • Erdheim-chester disease

    Sorry, no description available

  • Erectile dysfunction

    Sorry, no description available

  • Ergonomics education

    Sorry, no description available

  • Erysipelas

    Sorry, no description available

  • Erythema

    Sorry, no description available

  • Erythema nodosum

    Sorry, no description available

  • Erythroderma

    Sorry, no description available

  • Esophageal diverticulum

    Sorry, no description available

  • Esophageal motility study

    Sorry, no description available

  • Esophageal ph monitoring

    Sorry, no description available

  • Esophageal prosthesis

    Sorry, no description available

  • Esophagogastroduodenoscopy

    Sorry, no description available

  • Essential iris atrophy

    Sorry, no description available

  • Essential thrombocytosis

    Sorry, no description available

  • Esthesiometry

    Sorry, no description available

  • Esthesioneuroblastoma


    Esthesioneuroblastoma (ENB) is a rare malignant neoplasm of the sinonasal cavity, arising from the basal layers of olfactory neuroepithelial cells in the superior nasal vault, which usually occurs in the 5th to 6th decades of life and is characterized clinically by non-specific symptoms such as progressive ipsilateral nasal block, sinusitis, facial pain, intermittent headaches, hyposmia/dysosmia, rhinorrhea and epistaxis as well as proptosis, diplopia and excessive lacrimation due to orbital extension. 


    Fonte: http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1957


  • Evaluation of pigmented lesions of the vulva

    Sorry, no description available

  • Ewing sarcoma

    Sorry, no description available

  • Executive function test

    Sorry, no description available

  • Exocrine pancreatic insufficiency

    Sorry, no description available

  • Exophthalmometry

    Sorry, no description available

  • Exstrohpies

    Sorry, no description available

  • Extensive lymphadenopathy

    Sorry, no description available

  • External electrical cardioversion

    Sorry, no description available

  • External iliac artery endofibrosis

    Sorry, no description available

  • External ophthalmoplegia

    Sorry, no description available

  • External popliteal sciatic nerve compression

    Sorry, no description available

  • Extracavitary deep foreign body

    Sorry, no description available

  • Extrahepatic cholangiocarcinoma

    Sorry, no description available

  • Extrapyramidal symptoms

    Sorry, no description available

  • Eye biopsy

    Sorry, no description available

  • Eye diseases

    Sorry, no description available

  • Eye screening

    Sorry, no description available

  • Eyelid biopsy

    Sorry, no description available

  • F

  • Fabry disease

    Sorry, no description available

  • Facial angiomas

    Sorry, no description available

  • Facial asymmetries

    Sorry, no description available

  • Facial deformities

    Sorry, no description available

  • Facial neoplasia

    Sorry, no description available

  • Facial skeleton cat

    Sorry, no description available

  • Facial skeleton mri

    Sorry, no description available

  • Facial vascular malformations

    Sorry, no description available

  • Facioscapulohumeral muscular dystrophy


    Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood.

    Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around Terese Winslow LLC/National Cancer Institute

  • " href="https://ghr.nlm.nih.gov/art/large/eye-anatomy.jpeg?ow" data-remote="/art/large/eye-anatomy.jpeg" data-source-href="https://visualsonline.cancer.gov/details.cfm?imageid=7161" style="border-bottom-width: 1px; border-bottom-style: dashed; border-bottom-color: rgb(144, 144, 144);">the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball.

    The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair.

    Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing.

    Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.


    Fonte: https://ghr.nlm.nih.gov/condition/facioscapulohumeral-muscular-dystrophy


  • Factor ii deficiency

    Sorry, no description available

  • Factor v deficiency

    Sorry, no description available

  • Factor vii deficiency

    Sorry, no description available

  • Factor x deficiency

    Sorry, no description available

  • Factor xi deficiency

    Sorry, no description available

  • Factor xiii deficiency

    Sorry, no description available

  • Faecaloma

    Faecal concretions or faecalomas ('stone of faeces') are symptomatic of many well-recognised colorectal conditions. Faecalomas are usually located in the colon or rectum and associated with disorders of colorectal transit.


    Fonte: https://www.ncbi.nlm.nih.gov/pubmed/22391354


  • Familial and primary amyloidosis

    Hereditary amyloidosis is one type of the systemic amyloidosis diseases that are caused by inheriting a gene mutation. That genetic mutation then produces an amyloid protein that forms into an abnormal shape. These abnormal “misfolded” amyloid proteins can be deposited and cluster in the body’s nerves and other organs and once they build up, this may affect and harm tissue and/or organ function. Even though you are born with a gene mutation, normally the harmful deposits don’t occur until adulthood. Although all the types of the hereditary amyloidoses can cause serious complications, there are some carriers of this genetic mutation that may not show symptoms of the disease at all. Others may have a few, more minor, health issues. There are 2 main classifications of hereditary amyloidosis diseases: ATTR and Non-TTR.

    However, it is further complicated by the fact that there are approximately 126 different genetic variations in ATTR, and at least 53 genetic variations in Non-TTR hereditary amyloidosis diseases. It is possible that more may be discovered as research continues. Each family with a certain hereditary form of amyloidosis has its own pattern of organ involvement, approximate age of onset and associated symptoms. Typically, families know when they have a hereditary form of amyloidosis because of similar symptoms and causes of illness among blood relatives, so family history is a key indicator.


    Fonte: www.amyloidosis.org/facts/familial/

  • Familial and/or multiple cutaneous melanoma

    Sorry, no description available

  • Familial cold autoinflammatory syndrome

    Sorry, no description available

  • Familial dyslipidemia

    Sorry, no description available

  • Familial exudative vitreoretinopathy and coats’ disease

    Sorry, no description available

  • Familial mediterranean fever

    Sorry, no description available

  • Familial polyposis

    Sorry, no description available

  • Family therapy

    Sorry, no description available

  • Fanconi anemia

    Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.


    Fonte: http://www.orpha.net

  • Farber disease

    Sorry, no description available

  • Febrile convulsions

    Sorry, no description available

  • Female hirsutism

    Sorry, no description available

  • Female urinary incontinence surgery

    Sorry, no description available

  • Femoral hernia

    Sorry, no description available

  • Fetal dna test

    Sorry, no description available

  • Fetal heart defects

    Sorry, no description available

  • Fetal hydantoin syndrome

    Fetal hydantoin syndrome is a drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.


    Fonte: http://www.orpha.net

  • Fetal malformations

    Sorry, no description available

  • Fetal surgery

    Sorry, no description available

  • Fetal valproate syndrome

    Fetal valproate syndrome (FVS), is an anticonvulsant drug-related embryofetopathy that can occur when a fetus is exposed to valproic acid (VPA), characterized by distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication).


    Fonte: http://www.orpha.net

  • Fibrillary astrocytoma


    The fibrillary astrocytoma is a relatively slow growing astrocytoma histologically composed of cells with many fibrils. It usually is found in adolescents andyoung adults. Although its cells are moderately well differentiated, they tend to invade neighboring tissues.

  • Fibrodysplasia ossificans progressiva (fop)

    Sorry, no description available

  • Fibrolaringoscopy

    Sorry, no description available

  • Fibrolipomi

    Sorry, no description available

  • Fibromas

    Sorry, no description available

  • Fibromyalgia

    Sorry, no description available

  • Fibropapilloma

    Sorry, no description available

  • Fibrorinoscopy

    Sorry, no description available

  • Fibrosis

    Sorry, no description available

  • Fibrositis sequelae of tuberculosis

    Sorry, no description available

  • Fibrous dysplasia


    Fibrous dysplasia is an uncommon bone disorder in which scar-like (fibrous) tissue develops in place of normal bone. This irregular tissue can weaken the affected bone and cause it to deform or fracture. In most cases, fibrous dysplasia occurs at a single site in one bone, but can occur at multiple sites in multiple bones. Single bone involvement usually occurs in adolescents and young adults. People who have more than one affected bone typically develop symptoms before the age of 10. Although fibrous dysplasia is a genetic disorder, it's caused by a gene mutation that's not passed from parent to child. There's no cure for the disorder. Treatment, which may include surgery, focuses on relieving pain and repairing or stabilizing bones.


    Fonte: Mayo Clinic

  • Filariasis

    Filariasis is a parasitic disease caused by tissue-invasive, vector-borne nematodes which can be found anywhere in the human body and that are transmitted to humans through the bite of an infected mosquito or fly or by consumption of unsafe drinking water and which, depending on the subtype can manifest with lymphedema, dermatitis, subcutaneous edema and eye involvement. Filariasis is a major public health problem in many tropical and subtropical countries.


    Fonte: http://www.orpha.net



  • Filippi syndrome

    Filippi syndrome is characterised by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. 


    Fonte: http://www.orpha.net

  • Fine-lubinsky syndrome

    Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.


    Fonte: http://www.orpha.net

  • Finger deformity

    Sorry, no description available

  • Fish test

    Sorry, no description available

  • Fissured aneurysm

    Sorry, no description available

  • Fistulas

    Sorry, no description available

  • Fistulography of abdomen

    Sorry, no description available

  • Fistulography of lower limb

    Sorry, no description available

  • Fistulography of upper limb

    Sorry, no description available

  • Flat and common warts

    Sorry, no description available

  • Flat feet

    Sorry, no description available

  • Fluorangiography

    Sorry, no description available

  • Fluorescein angiography

    Sorry, no description available

  • Flutters

    Sorry, no description available

  • Focal atrial tachycardia

    Sorry, no description available

  • Focal liver lesions

    Sorry, no description available

  • Focal nodular hyperplasia

    Sorry, no description available

  • Focal spasticity

    Sorry, no description available

  • Foix-chavany-marie syndrome

    Foix-Chavany-Marie syndrome (FCMS) is a cortico-subcortical suprabulbar or pseudobulbar palsy of the lower cranial nerves, characterized by severe dysarthria and dysphagia associated with bilateral central facio-pharyngo-glosso-masticatory paralysis, with prominent automatic-voluntary dissociation in which involuntary movements of the affected muscles are preserved.


    Fonte: http://www.orpha.net

  • Follicular monitoring

    Sorry, no description available

  • Food intolerances

    Sorry, no description available

  • Food science

    Sorry, no description available

  • Foot disorders

    Sorry, no description available

  • Foot surgery

    Sorry, no description available

  • Foot surgery

    Sorry, no description available

  • Foreskin stretching

    Sorry, no description available

  • Fractures

    Sorry, no description available

  • Fragile x syndrome

    Sorry, no description available

  • Franceschetti syndrome

    Sorry, no description available

  • Frank-ter haar syndrome

    Frank-Ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.


    Fonte: http://www.orpha.net

  • Frasier syndrome

    Frasier syndrome is characterised by the association of male pseudohermaphrodism and glomerular nephropathy. This syndrome is associated with a high risk of developing gonadoblastoma.


    Fonte: http://www.orpha.net

  • Freeman-sheldon syndrome

    Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.


    Fonte: http://www.orpha.net

  • Frenulum breve

    Sorry, no description available

  • Friedreich's ataxia

    Sorry, no description available

  • Frontonasal dysplasia

    Sorry, no description available

  • Frontotemporal dementia

    Sorry, no description available

  • Frozen shoulder

    Sorry, no description available

  • Fuchs heterochromic iridocyclitis

    Sorry, no description available

  • Full abdominal cat

    Sorry, no description available

  • Full spirometry

    Sorry, no description available

  • Functional motor rehabilitation

    Sorry, no description available

  • Functional oesophageal disorders

    Sorry, no description available

  • Functional rehabilitation

    Sorry, no description available

  • Functional rhinoplasty

    Sorry, no description available

  • Fundus photography

    Sorry, no description available

  • Funicular cysts

    Sorry, no description available

  • G

  • Gait analysis

    Sorry, no description available

  • Galactography

    Sorry, no description available

  • Gallbladder and common bile duct stones

    Sorry, no description available

  • Gallbladder cancer

    Sorry, no description available

  • Gallbladder stones

    Sorry, no description available

  • Gallbladder tumours

    Sorry, no description available

  • Gallstones

    Sorry, no description available

  • Gamma knife

    Sorry, no description available

  • Ganglioglioma

    Sorry, no description available

  • Ganglion neuralgia

    Sorry, no description available

  • Ganglioneuroma

    Sorry, no description available

  • Gangliosidosis

    Sorry, no description available

  • Gardner's syndrome

    Sorry, no description available

  • Gastrectomy

    Sorry, no description available

  • Gastric band

    Sorry, no description available

  • Gastric bypass

    Sorry, no description available

  • Gastric neoplasia

    Sorry, no description available

  • Gastric tissue biopsy

    Sorry, no description available

  • Gastric tumours with pyloric stenosis

    Sorry, no description available

  • Gastritis

    Sorry, no description available

  • Gastroduodenal neoplasia

    Sorry, no description available

  • Gastroduodenal ulcers

    Sorry, no description available

  • Gastroenteritis

    Gastroenteritis is an inflammation of the lining of the intestines caused by a virus, bacteria or parasites.


    Fonte: https://www.niddk.nih.gov


  • Gastroenterological and hepatological diseases

    Sorry, no description available

  • Gastroenterology

    Sorry, no description available

  • Gastroesophageal reflux disease

    Sorry, no description available

  • Gastrointestinal bleeding

    Sorry, no description available

  • Gastrointestinal carcinoid tumours

    Sorry, no description available

  • Gastrointestinal dysfunction

    Sorry, no description available

  • Gastrointestinal neuroendocrine tumours

    Sorry, no description available

  • Gastrointestinal scintigraphy

    Sorry, no description available

  • Gastrointestinal tumours

    Sorry, no description available

  • Gastroschisis

    Sorry, no description available

  • Gaucher's disease

    Sorry, no description available

  • Gender identity disorders

    Sorry, no description available

  • General medicine

    Sorry, no description available

  • General surgery

    Sorry, no description available

  • Generalised anxiety disorder

    Sorry, no description available

  • Generalised epilepsy

    Sorry, no description available

  • Genetic cardiomyopathy

    Sorry, no description available

  • Genetic obesity

    Sorry, no description available

  • Genetic testing

    Sorry, no description available

  • Genetics

    Sorry, no description available

  • Genital abnormalities

    Sorry, no description available

  • Genital herpes

    Genital herpes is an sexually transmitted disease caused by two types of viruses. The viruses are called herpes simplex virus type 1 (HSV-1) and herpes simplex virus type 2 (HSV-2).


    Fonte: https://www.cdc.gov/std/herpes/stdfact-herpes.htm


  • Genital warts

    Sorry, no description available

  • Genitourinary prolapse

    Sorry, no description available

  • Genodermatosis

    Sorry, no description available

  • Gerd

    Sorry, no description available

  • Geriatrics

    Sorry, no description available

  • Geriatrics

    Sorry, no description available

  • Germ cell tumours

    Sorry, no description available

  • Germinoma

    Sorry, no description available

  • Gerstmann syndrome

    Gerstmann syndrome is a very rare neurological disorder characterized by the specific association of acalculia, finger agnosia, left-right disorientation, and agraphia, which is supposed to be secondary to a focal subcortical white matter damage in the parietal lobe.


    Fonte: http://www.orpha.net

  • Gestational diabetes

    Sorry, no description available

  • Gestational pemphigoid

    Sorry, no description available

  • Giant axonal neuropathy

    Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.


    Fonte: http://www.orpha.net

  • Giant cell arteritis


    Giant cell arteritis is an inflammation of the lining of your arteries. Most often, it affects the arteries in your head, especially those in your temples. For this reason, giant cell arteritis is sometimes called temporal arteritis. Giant cell arteritis frequently causes headaches, scalp tenderness, jaw pain and vision problems. If left untreated, it can lead to stroke or blindness.

    Prompt treatment with corticosteroid medications usually relieves symptoms of giant cell arteritis and may prevent loss of vision. You'll likely begin to feel better within days of starting treatment. But even with treatment, relapses are common. You'll need to visit your doctor regularly for checkups and treatment of any side effects from taking corticosteroids.


    Fonte: Mayo Clinic

  • Giant hypertrophic gastritis


    Fonte: http://www.orpha.net


  • Giant nevi

    Sorry, no description available

  • Gigantism

    Sorry, no description available

  • Gingivitis

    Sorry, no description available

  • Gitelman syndrome

    Sorry, no description available

  • Glabella lines

    Sorry, no description available

  • Glanders

    Glanders is an infectious disease that is caused by the bacterium Burkholderia mallei. Glanders is primarily a disease affecting horses, but it also affects donkeys and mules and can be naturally contracted by goats, dogs, and cats. Human infection, although not seen in the United States since 1945, has occurred rarely and sporadically among laboratory workers and those in direct and prolonged contact with infected, domestic animals. The disease is diagnosed in the laboratory by isolating Burkholderia mallei from blood, sputum, urine, or skin lesions. 


    Fonte: http://www.health.pa.gov


  • Glanzmann thrombasthenia

    Sorry, no description available

  • Glaucoma

    Sorry, no description available

  • Glaucoma surgery

    Sorry, no description available

  • Glenoid labrum pathology

    Sorry, no description available

  • Glioblastoma

    Sorry, no description available

  • Glioma

    Sorry, no description available

  • Global postural re-education

    Sorry, no description available

  • Globoid cell leukodystrophy

    Globoid cell leukodystrophy or Krabbe disease is a lysosomal disorder that affects the white matter of the central and peripheral nervous systems. It includes infantile, late-infantile/juvenile and adult forms.


    Fonte: http://www.orpha.net

  • Glomerular diseases

    Sorry, no description available

  • Glomerulonephritis

    Sorry, no description available

  • Glomus tumour

    Sorry, no description available

  • Glucose test

    Sorry, no description available

  • Glucose-6-phosphate dehydrogenase deficiency

    Sorry, no description available

  • Glutaric aciduria

    Sorry, no description available

  • Glycemic index

    Sorry, no description available

  • Goitre

    Sorry, no description available

  • Goldenhar syndrome

    Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.


    Fonte: http://www.orpha.net

  • Gonadal dysgenesis

    Sorry, no description available

  • Gonadal tumours

    Sorry, no description available

  • Goodman syndrome

    Goodman syndrome is an extremely rare genetic disorder characterized by marked malformations of the head and face (essentially acrocephaly), abnormalities of the hands and feet (polydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), and congenital heart disease.


    Fonte: http://www.orpha.net

  • Goodpasture syndrome

    Anti-glomerular basement membrane (anti-GBM) disease is a rapidly progressive and generally fulminant rare autoimmune condition characterized by the presence of anti-GBM antibodies, affecting glomerular and/or pulmonary capillaries. It may manifest as an isolated glomerulonephritis (anti-GBM nephritis) or as a pulmonary-renal syndrome with severe lung hemorrhage (Goodpasture's syndrome). 


    Fonte: http://www.orpha.net


  • Gorham-stout disease

    Sorry, no description available

  • Gout

    Sorry, no description available

  • Graft angiography

    Sorry, no description available

  • Graves' ophthalmopathy

    Sorry, no description available

  • Graves-basedow disease

    Sorry, no description available

  • Graves’ disease

    Sorry, no description available

  • Greig cephalopolysyndactyly syndrome

    Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.


    Fonte: http://www.orpha.net

  • Griscelli syndrome

    Griscelli syndrome (GS) is characterised by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).


    Fonte: http://www.orpha.net

  • Group therapy

    Sorry, no description available

  • Guillain-barré syndrome

    Sorry, no description available

  • Guyon’s canal syndrome

    Sorry, no description available

  • Gynaecological endoscopy (histeroscopy)

    Sorry, no description available

  • Gynaecological endoscopy (laparoscopy)

    Sorry, no description available

  • Gynaecological neoplasia

    Sorry, no description available

  • Gynaecology

    Sorry, no description available

  • Gynaecomastia surgery

    Gynecomastia surgery reduces breast size in men, flattening and enhancing the chest contours. In severe cases of gynecomastia, the weight of excess breast tissue may cause the breasts to sag and stretch the areola (the dark skin surrounding the nipple). In these cases the position and size of the areola can be surgically improved and excess skin may be reduced.

    Plastic surgery to correct gynecomastia is technically called reduction mammaplasty.

  • Gynecologic oncology

    Sorry, no description available

  • Gynecologic ultrasonography

    Sorry, no description available

  • Gynecological laparoscopy

    Sorry, no description available

  • Gynecomastia

    Sorry, no description available

  • H

  • Haematology

    Sorry, no description available

  • Haematology center

    Sorry, no description available

  • Haematoma

    Sorry, no description available

  • Haematuria

    Sorry, no description available

  • Haemodialysis

    Sorry, no description available

  • Haemodynamics

    Sorry, no description available

  • Haemolytic-uremic syndrome

    Sorry, no description available

  • Haemophilia a

    Sorry, no description available

  • Haemophilia b

    Sorry, no description available

  • Haemorrhagic injuries

    Sorry, no description available

  • Haemorrhagic stroke

    Sorry, no description available

  • Haemorrhoids

    Sorry, no description available

  • Haemostasis

    Sorry, no description available

  • Haemostasis

    Sorry, no description available

  • Haemotherapy

    Sorry, no description available

  • Hailey–hailey disease

    Sorry, no description available

  • Hallermann-streiff syndrome

    Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.


    Fonte: http://www.orpha.net

  • Hallervorden-spatz disease

    Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.


    Fonte: http://www.orpha.net

  • Hallux rigidus

    Sorry, no description available

  • Hamartoma

    Sorry, no description available

  • Hand fractures

    Sorry, no description available

  • Hand mri

    Sorry, no description available

  • Hand surgery

    Sorry, no description available

  • Hansen's disease

    Sorry, no description available

  • Hantavirus diseases

    Hantaviruses are a group of viruses that can cause severe illness in humans. People can become infected with a hantavirus when they inhale virus particles from rodent urine, droppings or saliva that have been released into the air, touch objects or eat food contaminated with the urine, droppings or saliva of infected rodents, are bitten by a rodent infected with a hantavirus. With the exception of the Andes hantavirus, the virus does not spread through person-to-person contact. The 2 most common diseases caused by a hantavirus infection are: hantavirus pulmonary syndrome (found in North and South America) and haemorrhagic fever with renal syndrome (found mainly in Europe and Asia).



    Fonte: https://www.canada.ca/en/public-health/services/diseases/hantaviruses/causes-hantavirus-infection.html


  • Hartnup disease

    Sorry, no description available

  • Hashimoto's thyroiditis

    Sorry, no description available

  • Head and neck neoplasia

    Sorry, no description available

  • Head cat

    Sorry, no description available

  • Head cysts

    Sorry, no description available

  • Headache

    Sorry, no description available

  • Headaches

    Sorry, no description available

  • Health check and prevention programs

    Sorry, no description available

  • Hearing disorders

    Sorry, no description available

  • Hearing loss

    Sorry, no description available

  • Heart and blood vessel diseases

    Sorry, no description available

  • Heart center

    Sorry, no description available

  • Heart cysts

    Sorry, no description available

  • Heart failure

    Sorry, no description available

  • Heart murmur

    Sorry, no description available

  • Heart neoplasia

    Sorry, no description available

  • Heart rhythm disorders

    Sorry, no description available

  • Heart teleradiography with barium swallow

    Sorry, no description available

  • Heart transplant

    Sorry, no description available

  • Heart valve prostheses

    Sorry, no description available

  • Heart valve repair surgery

    Sorry, no description available

  • Heel inflammation

    Sorry, no description available

  • Helicobacter pylori infection

    Sorry, no description available

  • Helicobacter pylori test

    Sorry, no description available

  • Hemangioma

    Sorry, no description available

  • Hemangiopericytoma

    Sorry, no description available

  • Hematologic neoplasia

    Sorry, no description available

  • Hematologic tumours

    Sorry, no description available

  • Hemicolectomy

    Sorry, no description available

  • Hemicrania

    Sorry, no description available

  • Hemifacial spasm

    Sorry, no description available

  • Hemiparesis

    Sorry, no description available

  • Hemiplegia

    Sorry, no description available

  • Hemispheric pilocytic astrocytoma

    Sorry, no description available

  • Hemochromatosis

    Sorry, no description available

  • Hemophilia and hereditary hemorrhagic thrombotic diseases diagnosis and treatment center

    Sorry, no description available

  • Hemorrhagic and thrombotic disorders

    Sorry, no description available

  • Hemorrhagic cystitis

    Sorry, no description available

  • Hemorrhoidal disease

    Sorry, no description available

  • Henoch-schönlein purpura

    Sorry, no description available

  • Hepatic cirrhosis

    Sorry, no description available

  • Hepatic cirrhosis with ascites

    Sorry, no description available

  • Hepatic echinococcosis

    Sorry, no description available

  • Hepatic encephalopathy

    Sorry, no description available

  • Hepatic fibrosis

    Sorry, no description available

  • Hepatic neoplasia

    Sorry, no description available

  • Hepatic steatosis

    Sorry, no description available

  • Hepatitis

    Sorry, no description available

  • Hepatitis


    Hepatitis is an inflammation of the liver. The condition can be self-limiting or can progress to fibrosis (scarring), cirrhosis or liver cancer. Hepatitis viruses are the most common cause of hepatitis in the world but other infections, toxic substances (e.g. alcohol, certain drugs), and autoimmune diseases can also cause hepatitis.

    There are 5 main hepatitis viruses, referred to as types A, B, C, D and E. These 5 types are of greatest concern because of the burden of illness and death they cause and the potential for outbreaks and epidemic spread. In particular, types B and C lead to chronic disease in hundreds of millions of people and, together, are the most common cause of liver cirrhosis and cancer.


    Fonte: http://www.who.int/features/qa/76/en/


  • Hepatitis a


    Hepatitis A is a liver disease caused by the hepatitis A virus. The virus is primarily spread when an uninfected (and unvaccinated) person ingests food or water that is contaminated with the faeces of an infected person. The disease is closely associated with unsafe water or food, inadequate sanitation and poor personal hygiene.

    Unlike hepatitis B and C, hepatitis A infection does not cause chronic liver disease and is rarely fatal, but it can cause debilitating symptoms and fulminant hepatitis (acute liver failure), which is often fatal.

    Hepatitis A occurs sporadically and in epidemics worldwide, with a tendency for cyclic recurrences. The hepatitis A virus is one of the most frequent causes of foodborne infection. Epidemics related to contaminated food or water can erupt explosively, such as the epidemic in Shanghai in 1988 that affected about 300 000 people. Hepatitis A viruses persist in the environment and can withstand food-production processes routinely used to inactivate and/or control bacterial pathogens. 

    The disease can lead to significant economic and social consequences in communities. It can take weeks or months for people recovering from the illness to return to work, school, or daily life. The impact on food establishments identified with the virus, and local productivity in general, can be substantial.


    Fonte: http://www.who.int/mediacentre/factsheets/fs328/en/


  • Hepatitis b

    Sorry, no description available

  • Hepatitis c

    Sorry, no description available

  • Hepatitis c center

    Sorry, no description available

  • Hepatitis e

    Sorry, no description available

  • Hepato-gastro-pancreatic surgery

    Sorry, no description available

  • Hepatobiliary and liver transplant surgery

    Sorry, no description available

  • Hepatobiliary and pancreatic surgery

    Sorry, no description available

  • Hepatobiliary scintigraphy

    Sorry, no description available

  • Hepatobiliary surgery

    Sorry, no description available

  • Hepatocellular cancer

    Sorry, no description available

  • Hepatocellular carcinoma

    Sorry, no description available

  • Hepatology

    Sorry, no description available

  • Hepatopathy

    Sorry, no description available

  • Herceptest

    Sorry, no description available

  • Hereditary anaemias

    Sorry, no description available

  • Hereditary angioedema

    Sorry, no description available

  • Hereditary combined vitamin k factors deficiency

    Sorry, no description available

  • Hereditary diseases

    Sorry, no description available

  • Hereditary essential myoclonus

    Sorry, no description available

  • Hereditary ichthyosis

    Sorry, no description available

  • Hereditary neuralgic amyotrophy


    Hereditary neuralgic amyotrophy is a disorder characterized by episodes of severe pain and muscle wasting (amyotrophy) in one or both shoulders and arms. Neuralgic pain is felt along the path of one or more nerves and often has no obvious physical cause. The network of nerves involved in hereditary neuralgic amyotrophy, called the brachial plexus, controls movement and sensation in the shoulders and arms.

    People with hereditary neuralgic amyotrophy usually begin experiencing attacks in their twenties, but episodes have occurred as early as the age of 1 year in some individuals. The attacks may be spontaneous or triggered by stress such as strenuous exercise, childbirth, surgery, exposure to cold, infections, immunizations, or emotional disturbance. While the frequency of the episodes tends to decrease with age, affected individuals are often left with residual problems, such as chronic pain and impaired movement, that accumulate over time.


    Fonte: https://ghr.nlm.nih.gov/condition/hereditary-neuralgic-amyotrophy

  • Hereditary neuropathies

    Sorry, no description available

  • Hereditary nonpolyposis colorectal cancer

    Sorry, no description available

  • Hereditary sensory and autonomic neuropathy, type 1

    Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.


    Fonte: http://www.orpha.net

  • Hereditary sideroblastic anaemia

    Sorry, no description available

  • Hereditary spherocytosis

    Sorry, no description available

  • Hereditary thrombocytopenia

    Sorry, no description available

  • Heredodegenerative retinal disorders

    Sorry, no description available

  • Hermaphroditism

    Sorry, no description available

  • Hernia

    Sorry, no description available

  • Hernias

    Sorry, no description available

  • Herpes keratitis

    Sorry, no description available

  • Herpes simplex

    Sorry, no description available

  • Herpes simplex and herpes zoster

    Sorry, no description available

  • Herpes testing

    Sorry, no description available

  • Herpes zoster

    Sorry, no description available

  • Hess lancaster test

    Sorry, no description available

  • Hess test

    Sorry, no description available

  • Hhh syndrome

    Sorry, no description available

  • Hiatus hernia

    Sorry, no description available

  • High-risk cardiopathy

    Sorry, no description available

  • Hip arthroplasty

    Sorry, no description available

  • Hip deformity

    Sorry, no description available

  • Hip dysplasia

    Sorry, no description available

  • Hip joint arthrosis

    Sorry, no description available

  • Hip pain

    Sorry, no description available

  • Hip replacementhip

    Sorry, no description available

  • Hip surgery

    Sorry, no description available

  • Hirsutism

    Sorry, no description available

  • Histiocytosis

    Sorry, no description available

  • Histology

    Sorry, no description available

  • Histopathology

    Sorry, no description available

  • Histoplasmosis

    Histoplasmosis is an infection caused by a fungus called Histoplasma. The fungus lives in the environment, particularly in soil that contains large amounts of bird or bat droppings. People can get histoplasmosis after breathing in the microscopic fungal spores from the air. Although most people who breathe in the spores don’t get sick, those who do may have a fever, cough, and fatigue.


    Fonte: https://www.cdc.gov/fungal/diseases/histoplasmosis/index.html


  • Hiv co-infection

    Sorry, no description available

  • Hiv infection

    Sorry, no description available

  • Hives

    Sorry, no description available

  • Hodgkin disease

    Sorry, no description available

  • Hodgkin lymphoma

    Sorry, no description available

  • Holocarboxylase synthetase deficiency

    Sorry, no description available

  • Holt-oram syndrome

    Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.


    Fonte: http://www.orpha.net

  • Homocystinuria

    Sorry, no description available

  • Hormonal disorders

    Sorry, no description available

  • Hpv infection

    Sorry, no description available

  • Hpv multi-specialist center

    Sorry, no description available

  • Hpv vaccination

    Sorry, no description available

  • Huntington's chorea

    Sorry, no description available

  • Huntington's disease

    Sorry, no description available

  • Hutchinson-gilford syndrome

    Hutchinson-Gilford syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).


    Fonte: http://www.orpha.net

  • Hydrocele

    Sorry, no description available

  • Hydrocephalus

    Sorry, no description available

  • Hydrolethalus syndrome

    Hydrolethalus syndrome (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.


    Fonte: http://www.orpha.net

  • Hydronephrosis

    Sorry, no description available

  • Hydroxyglutaric aciduria

    Sorry, no description available

  • Hyperactivity

    Sorry, no description available

  • Hyperaldosteronism

    Sorry, no description available

  • Hyperandrogenism

    Sorry, no description available

  • Hyperbetaalaninemia

    Sorry, no description available

  • Hyperhidrosis

    Sorry, no description available

  • Hyperhistidinemia

    Sorry, no description available

  • Hyperinsulinism

    Sorry, no description available

  • Hyperkyphosis

    Sorry, no description available

  • Hyperlysinemia

    Sorry, no description available

  • Hypermetropia

    Sorry, no description available

  • Hyperparathyroidism

    Sorry, no description available

  • Hyperpigmentation

    Sorry, no description available

  • Hyperplasia

    Sorry, no description available

  • Hyperprolactinemia

    Sorry, no description available

  • Hyperprolinemia

    Sorry, no description available

  • Hypersalivation

    Sorry, no description available

  • Hypersomnia

    Sorry, no description available

  • Hypertelorism

    Sorry, no description available

  • Hypertensive nephropathy

    Sorry, no description available

  • Hyperthyroidism

    Sorry, no description available

  • Hypertrichosis

    Sorry, no description available

  • Hypertrophic cardiomyopathy

    Sorry, no description available

  • Hypertrophic cardiopathy

    Sorry, no description available

  • Hypervalinemia

    Sorry, no description available

  • Hypoactive sexual desire disorder

    Sorry, no description available

  • Hypoadrenalism

    Sorry, no description available

  • Hypofibrinogenemia

    Sorry, no description available

  • Hypoglycaemia

    Sorry, no description available

  • Hypogonadism

    Sorry, no description available

  • Hypoparathyroidism

    Sorry, no description available

  • Hypopharyngeal neoplasia

    Sorry, no description available

  • Hypophosphatasia

    Sorry, no description available

  • Hypopituitarism

    Sorry, no description available

  • Hypospadias

    Sorry, no description available

  • Hypothyroidism

    Sorry, no description available

  • Hypovision

    Sorry, no description available

  • Hypoxic ischemic encephalopathy

    Sorry, no description available

  • Hysterosalpingography

    Sorry, no description available

  • Hysteroscopy

    Sorry, no description available

  • I

  • Iatrogenic lesions

    Sorry, no description available

  • Ichthyosis

    Sorry, no description available

  • Identity and relational disorders

    Sorry, no description available

  • Idiopathic juvenile osteoporosis

    Sorry, no description available

  • Idiopathic precocious puberty

    Sorry, no description available

  • Idiopathic torsion dystonia

    Sorry, no description available

  • Idiopathic ventricular fibrillation

    Sorry, no description available

  • Igg4-related disease

    Sorry, no description available

  • Illiac-caval outflow obstruction

    Sorry, no description available

  • Immunological disorders

    Sorry, no description available

  • Immunology

    Sorry, no description available

  • Immunotherapy

    Sorry, no description available

  • Impacted wisdom teeth

    Sorry, no description available

  • Impacted wisdom tooth extraction

    Sorry, no description available

  • Impedentiometry

    Sorry, no description available

  • Impulse control disorders

    Sorry, no description available

  • Incisional hernia

    Sorry, no description available

  • Individual therapy

    Sorry, no description available

  • Indocyanine green angiography

    Sorry, no description available

  • Induratio penis plastica

    Sorry, no description available

  • Infant brain damage

    Sorry, no description available

  • Infantile cerebral palsy

    Sorry, no description available

  • Infantile neuroaxonal dystrophy

    Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.


    Fonte: http://www.orpha.net

  • Infantile scoliosis

    Sorry, no description available

  • Infections

    Sorry, no description available

  • Infections in the immunocompromised host

    Sorry, no description available

  • Infectious and tropical diseases

    Sorry, no description available

  • Infectious bacterial, fungal and acanthamoeba keratitis

    Sorry, no description available

  • Infectious mononucleosis

    Infectious mononucleosis, or "mono", is an infection usually caused by the Epstein-Barr virus. The virus spreads through saliva, which is why it's sometimes called "kissing disease." Mono occurs most often in teens and young adults. However, you can get it at any age. Symptoms of mono include fever, sore throat, swollen lymph glands. Sometimes you may also have a swollen spleen. Serious problems are rare.



    Fonte: https://medlineplus.gov/infectiousmononucleosis.html

  • Infectious myocarditis

    Sorry, no description available

  • Inferior and superior vena cava angiography

    Sorry, no description available

  • Inferior vena cava syndrome

    Sorry, no description available

  • Infiltration

    Sorry, no description available

  • Infiltrations

    Sorry, no description available

  • Inflammatory and infectious diseases

    Sorry, no description available

  • Inflammatory bowel diseases

    Sorry, no description available

  • Inflammatory musculoskeletal diseases

    Sorry, no description available

  • Inflammatory polyarthritis

    Sorry, no description available

  • Infusion medications

    Sorry, no description available

  • Ingrown toenail

    Sorry, no description available

  • Inguinal hernia

    Sorry, no description available

  • Inherited coagulation disorders

    Sorry, no description available

  • Inherited epidermolysis bullosa

    Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.


    Fonte: http://www.orpha.net

  • Insect sting allergy

    Sorry, no description available

  • Insomnia

    Sorry, no description available

  • Instrumental diagnostics

    Sorry, no description available

  • Instrumental physiotherapy

    Sorry, no description available

  • Insulin resistance syndromes

    Sorry, no description available

  • Integumentary and soft tissue disease

    Sorry, no description available

  • Integumentary diseases

    Sorry, no description available

  • Intellectual disability

    Sorry, no description available

  • Intelligence test

    Sorry, no description available

  • Intensive care

    Sorry, no description available

  • Interferonopathies

    Sorry, no description available

  • Internal mammary artery angiography

    Sorry, no description available

  • Internal medicine

    Sorry, no description available

  • Interstitial cystitis

    Sorry, no description available

  • Interstitial lung disease

    Sorry, no description available

  • Interstitial lung diseases

    Sorry, no description available

  • Interstitial nephritis

    Sorry, no description available

  • Interstitial pneumonia

    Sorry, no description available

  • Interstitial pulmonary disease

    Sorry, no description available

  • Interventional cardiology

    Sorry, no description available

  • Intestinal atresia

    Sorry, no description available

  • Intestinal disease

    Sorry, no description available

  • Intestinal failure

    Sorry, no description available

  • Intestinal lymphangiectasia

    Intestinal lymphangiectasia is characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogammaglobulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. 


    Fonte: https://www.ncbi.nlm.nih.gov

  • Intestinal tumours

    Sorry, no description available

  • Intestinal ultrasound

    Sorry, no description available

  • Intolerance

    Sorry, no description available

  • Intracellular trafficking defect

    Sorry, no description available

  • Intracranial aneurysm embolization

    Sorry, no description available

  • Intracranial neoplasia

    Sorry, no description available

  • Intracraniel pressure measurememt

    Sorry, no description available

  • Intraductal papillary mucinous neoplasm (ipnm)

    Sorry, no description available

  • Intragastric balloon

    Sorry, no description available

  • Intrahepatic cholangiocarcinoma

    Sorry, no description available

  • Intrahepatic stones

    Sorry, no description available

  • Intrathoracic goitre

    Sorry, no description available

  • Intrauterine growth restriction

    Sorry, no description available

  • Iridocyclitis

    Sorry, no description available

  • Iris prolapse

    Sorry, no description available

  • Iron-deficiency anaemia

    Sorry, no description available

  • Irritable bowel syndrome

    Sorry, no description available

  • Isaac syndrome

    Isaac's syndrome is an immune-mediated peripheral motor neuron disorder characterized by continuous muscle fiber activity at rest resulting in muscle stiffness, cramps, myokymia, and pseudomyotonia.


    Fonte: http://www.orpha.net

  • Ischaemia

    Sorry, no description available

  • Ischaemic diseases

    Sorry, no description available

  • Ischemic cardiopathy

    Sorry, no description available

  • Ischemic dilated cardiomyopathy

    Sorry, no description available

  • Ischemic pain

    Sorry, no description available

  • Ischemic retraction

    Sorry, no description available

  • Ischemic stroke

    Sorry, no description available

  • J

  • Jackson-weiss syndrome

    Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.


    Fonte: http://www.orpha.net

  • Japanese encephalitis


    Japanese encephalitis (JE) virus is the leading cause of vaccine-preventable encephalitis in Asia and the western Pacific. For most travelers to Asia, the risk for JE is very low but varies based on destination, duration of travel, season, and activities. JE virus is maintained in a cycle involving mosquitoes and vertebrate hosts, mainly pigs and wading birds. Humans can be infected when bitten by an infected mosquito. Most human infections are asymptomatic or result in only mild symptoms. However, a small percentage of infected persons develop inflammation of the brain (encephalitis), with symptoms including sudden onset of headache, high fever, disorientation, coma, tremors and convulsions. About 1 in 4 cases are fatal. There is no specific treatment for JE. Patient management focuses on supportive care and management of complications. Steps to prevent JE include using personal protective measures to prevent mosquito bites and vaccination.


    Fonte: https://www.cdc.gov/japaneseencephalitis/


  • Jarcho-levin syndrome

    Jarcho-Levin syndrome or autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.


    Fonte: http://www.orpha.net

  • Jaundice

    Sorry, no description available

  • Joint and/or soft tissue mobilisation

    Sorry, no description available

  • Joint dysfunctions that lead to difficulties or pain in the mouth opening

    Sorry, no description available

  • Joint injuries

    Sorry, no description available

  • Joint instability

    Sorry, no description available

  • Joubert syndrome

    Sorry, no description available

  • Jugular and superior vena cava malformations

    Sorry, no description available

  • Jugular venography

    Sorry, no description available

  • Juvenile idiopathic arthritis

    Sorry, no description available

  • Juvenile nasopharyngeal angiofibroma


    Juvenile nasopharyngeal angiofibroma (JNA) is a benign tumor that tends to bleed and occurs in the nasopharynx of prepubertal and adolescent males.

  • K

  • Kabuki syndrome

    Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.


    Fonte: http://www.orpha.net

  • Kallmann syndrome

    Sorry, no description available

  • Kawasaki disease

    Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.


    Fonte: http://www.orpha.net

  • Kearns-sayre syndrome

    Sorry, no description available

  • Kennedy disease

    Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.


    Fonte: http://www.orpha.net

  • Keppen–lubinsky syndrome

    Sorry, no description available

  • Keratoacanthoma

    Sorry, no description available

  • Keratoconus

    Sorry, no description available

  • Keratolytic winter erythema

    Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission.


    Fonte: http://www.orpha.net

  • Keratosis

    Sorry, no description available

  • Keratouveitis

    Sorry, no description available

  • Keutel syndrome

    Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.


    Fonte: http://www.orpha.net

  • Kid syndrome

    Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.


    Fonte: http://www.orpha.net

  • Kidney and bladder ultrasound

    Sorry, no description available

  • Kidney biopsy

    Sorry, no description available

  • Kidney cancer surgery

    Sorry, no description available

  • Kidney cat

    Sorry, no description available

  • Kidney disease

    Sorry, no description available

  • Kidney diseases

    Sorry, no description available

  • Kidney dysplasia

    Sorry, no description available

  • Kidney failure

    Sorry, no description available

  • Kidney stone surgery

    Sorry, no description available

  • Kidney stones

    Sorry, no description available

  • Kidney tumour

    Sorry, no description available

  • Kinesio taping

    Sorry, no description available

  • Klatskin tumour

    Sorry, no description available

  • Klinefelter syndrome

    Sorry, no description available

  • Klippel-feil syndrome

    Klippel-Feil Syndrome is characterised by improper segmentation of cervical segments resulting in congenitally fused cervical vertebrae.


    Fonte: http://www.orpha.net

  • Knee and foot ligament injuries

    Sorry, no description available

  • Knee arthroplasty

    Sorry, no description available

  • Knee arthroscopy

    Sorry, no description available

  • Knee cat

    Sorry, no description available

  • Knee dislocation

    Sorry, no description available

  • Knee flexion

    Sorry, no description available

  • Knee ligament surgery

    Sorry, no description available

  • Knee mri

    Sorry, no description available

  • Knee replacement

    Sorry, no description available

  • Knee surgery

    Sorry, no description available

  • Kyphoscoliosis

    Sorry, no description available

  • Kyphosis

    Sorry, no description available

  • L

  • Labiopalatoschisis

    Sorry, no description available

  • Laboratory and culture tests

    Sorry, no description available

  • Labyrinthitis

    Sorry, no description available

  • Lambert–eaton myasthenic syndrome

    Sorry, no description available

  • Lamellar ichthyosis

    Sorry, no description available

  • Landau-kleffner syndrome

    Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term "acquired epileptic aphasia" describes the main features of this condition.


    Fonte: http://www.orpha.net

  • Language disorders

    Sorry, no description available

  • Laparoscopic colorectal surgery

    Sorry, no description available

  • Laparoscopic colposacropexy

    Sorry, no description available

  • Laparoscopic surgery

    Sorry, no description available

  • Laron syndrome

    Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.


    Fonte: http://www.orpha.net

  • Laryngeal disorders

    Sorry, no description available

  • Laryngeal endoscopy

    Sorry, no description available

  • Laryngeal neoplasia

    Sorry, no description available

  • Laryngeal stenosis

    Sorry, no description available

  • Laryngeal tumours

    Sorry, no description available

  • Laryngoscopy

    Sorry, no description available

  • Laser therapy

    Sorry, no description available

  • Lassa fever

    Lassa fever (LF) is a potentially severe viral hemorrhagic disease caused by Lassa virus and characterized by initial fever and malaise followed by gastrointestinal symptoms and, in severe cases, bleeding, shock and multi-organ system failure.


    Fonte: http://www.orpha.net


  • Latent tetany test

    Sorry, no description available

  • Lateral deviations

    Sorry, no description available

  • Learning disabilities

    Sorry, no description available

  • Leber congenital amaurosis


    Leber congenital amaurosis (LCA) is a rare genetic eye disorder. Affected infants are often blind at birth. Other symptoms may include crossed eyes (strabismus); rapid, involuntary eye movements (nystagmus); unusual sensitivity to light (photophobia); clouding of the lenses of the eyes (cataracts); and/or a cone shape to the front of the eye (keratoconus). LCA is usually inherited as an autosomal recessive genetic condition.


    Fonte: www.webmd.com/children/lebers-congenital-amaurosis

  • Leber's optic atrophy

    Sorry, no description available

  • Leber’s hereditary optic neuropathy and autosomal dominant inheritance

    Sorry, no description available

  • Left heart ventriculography

    Sorry, no description available

  • Leg cat

    Sorry, no description available

  • Legionellosis

    Legionellosis or Legionnaires' disease (LD) is a bacterial lung infection characterized by a potentially fatal pneumonia.


    Fonte: http://www.orpha.net

  • Leigh syndrome

    Sorry, no description available

  • Leishmaniasis

    Sorry, no description available

  • Lennox-gastaut syndrome

    Sorry, no description available

  • Leopard syndrome

    LEOPARD syndrome is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.


    Fonte: http://www.orpha.net

  • Leprechaunism

    Leprechaunism is a congenital form of extreme insulin resistance (a group of syndromes that also includes Rabson-Mensenhall syndrome, type A insulin-resistance syndrome, and acquired type B insulin-resistance syndrome) characterized by intrauterine and mainly postnatal severe growth retardation.


    Fonte: http://www.orpha.net


  • Leptospirosis

    Leptospirosis is an anthropozoonosis caused by spiral-shaped bacteria belonging to the genus Leptospira. Leptospirosis is a widespread zoonosis with a worldwide distribution and has emerged as a major public health problem in developing countries in South-East Asia and South America.


    Fonte: http://www.orpha.net

  • Lesch-nyhan syndrome

    Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (see this term), a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems.


    Fonte: http://www.orpha.net

  • Leukemia

    Sorry, no description available

  • Leukodystrophies

    Sorry, no description available

  • Leukoencephalopathies

    Sorry, no description available

  • Levy-hollister syndrome


    Fonte: http://www.orpha.net

  • Lichen planus

    Sorry, no description available

  • Lichen sclerosus et atrophicus

    Lichen sclerosus et atrophicus is a chronic, atrophic lymphocyte-mediated inflammatory dermatosis characterized by shiny, white atrophic patches with a predilection for the genital and perineal skin. The lesions corresponds to white, angular, flat, well-defined, indurated papules with an erythematous halo and follicular, black, keratotic plugs.


    Fonte: https://www.ncbi.nlm.nih.gov


  • Ligament injuries

    Sorry, no description available

  • Ligneous conjunctivitis

    Sorry, no description available

  • Limb angiomas

    Sorry, no description available

  • Limb dynamometric analysis??

    Sorry, no description available

  • Limb-girdle muscular dystrophy


    Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD.


    Fonte: Orphanet

  • Limph node biopsy

    Sorry, no description available

  • Lip biopsy

    Sorry, no description available

  • Lip tumours

    Sorry, no description available

  • Lipid storage diseases


    Lipid storage diseases, or the lipidoses, are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body.  People with these disorders either do not produce enough of one of the enzymes needed to  break down (metabolize) lipids or they produce enzymes that do not work properly.  Over time, this excessive storage of fats can cause permanent cellular and tissue damage, particularly in the brain, peripheral nervous system, liver, spleen, and bone marrow.


    Fonte: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Lipid-Storage-Fact-Sheet


  • Lipodystrophies

    Sorry, no description available

  • Lipomas

    Sorry, no description available

  • Lipothymia

    Sorry, no description available

  • Livedoid vasculitis and vasculopathy

    Sorry, no description available

  • Liver adenoma

    Sorry, no description available

  • Liver and pancreatic cancer surgery

    Sorry, no description available

  • Liver angioma

    Sorry, no description available

  • Liver biopsy

    Sorry, no description available

  • Liver cancer screening

    Sorry, no description available

  • Liver diseases

    Sorry, no description available

  • Liver elastography

    Sorry, no description available

  • Liver failure

    Sorry, no description available

  • Liver injuries

    Sorry, no description available

  • Liver involvement

    Sorry, no description available

  • Liver metastases

    Sorry, no description available

  • Liver metastases from colorectal cancer

    Sorry, no description available

  • Liver scintigraphy

    Sorry, no description available

  • Liver spots

    Sorry, no description available

  • Liver transplant

    Sorry, no description available

  • Liver trauma

    Sorry, no description available

  • Liver tumour

    Sorry, no description available

  • Liver tumours

    Sorry, no description available

  • Lobar emphysema

    Sorry, no description available

  • Locoregional chemotherapy

    Sorry, no description available

  • Loeys-dietz syndrome

    Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.


    Fonte: http://www.orpha.net

  • Logopedics

    Sorry, no description available

  • Long qt syndrome

    Sorry, no description available

  • Long term electrocardiography (holter) monitoring

    Sorry, no description available

  • Long term electroencephalography (holter) monitoring

    Sorry, no description available

  • Long-term drug use

    Sorry, no description available

  • Lordoscoliosis

    Sorry, no description available

  • Lordosis

    Sorry, no description available

  • Lowe syndrome

    Sorry, no description available

  • Lower abdomen mri

    Sorry, no description available

  • Lower abdominal cat

    Sorry, no description available

  • Lower back pain

    Sorry, no description available

  • Lower extremities angiography

    Sorry, no description available

  • Lower extremities arteriography

    Sorry, no description available

  • Lower limb artery aneurysm

    Sorry, no description available

  • Lower limb muscle training

    Sorry, no description available

  • Lower limb occlusive disease

    Sorry, no description available

  • Lower limb rotational disorders

    Sorry, no description available

  • Lower limb ulcers

    Sorry, no description available

  • Lower limb x-ray

    Sorry, no description available

  • Lower urinary tract endoscopy

    Sorry, no description available

  • Lumbar cruralgia

    Sorry, no description available

  • Lumbar disc herniation

    Sorry, no description available

  • Lumbar discography

    Sorry, no description available

  • Lumbar instability

    Sorry, no description available

  • Lumbar mri

    Sorry, no description available

  • Lumbar puncture

    Sorry, no description available

  • Lumbar spinal stenosis

    Sorry, no description available

  • Lumbosacral or dorsal cat

    Sorry, no description available

  • Lumbosciatica

    Sorry, no description available

  • Lung abscess

    Sorry, no description available

  • Lung biopsy

    Sorry, no description available

  • Lung resection

    Sorry, no description available

  • Lung scintigraphy

    Sorry, no description available

  • Lung transplant

    Sorry, no description available

  • Lung tumour

    Sorry, no description available

  • Lupus erythematosus

    Sorry, no description available

  • Lyell's syndrome

    Sorry, no description available

  • Lyme disease

    Sorry, no description available

  • Lymph node biopsy

    Sorry, no description available

  • Lymphadenectomy

    Sorry, no description available

  • Lymphangioleiomyomatosis

    Sorry, no description available

  • Lymphangiomas

    Sorry, no description available

  • Lymphangitis

    Sorry, no description available

  • Lymphatic drainage

    Sorry, no description available

  • Lymphatic malformations

    Sorry, no description available

  • Lymphedema

    Sorry, no description available

  • Lymphoid tumours

    Sorry, no description available

  • Lymphoma

    Sorry, no description available

  • Lymphoma diagnosis and treatment center

    Sorry, no description available

  • Lysinuric protein intolerance

    Sorry, no description available

  • Lysis of adhesions

    Sorry, no description available

  • M

  • Macrophage-activation syndrome

    Sorry, no description available

  • Macular degeneration

    Sorry, no description available

  • Macular diseases

    Sorry, no description available

  • Macular oedema

    Sorry, no description available

  • Maculopathy

    Sorry, no description available

  • Madelung deformity

    Sorry, no description available

  • Maffucci syndrome

    Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.


    Fonte: http://www.orpha.net

  • Magnetic resonance

    Sorry, no description available

  • Magnetic resonance imaging of joints

    Sorry, no description available

  • Mainzer-saldino syndrome

    Mainzer-Saldino syndrome is characterised by the association of renal disease, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia.


    Fonte: http://www.orpha.net

  • Major burns

    Sorry, no description available

  • Major burns clinic

    Sorry, no description available

  • Major paediatric burns

    Sorry, no description available

  • Malabsorption

    Sorry, no description available

  • Malaria

    Sorry, no description available

  • Male and female incontinence surgery

    Sorry, no description available

  • Male and female urinary incontinence

    Sorry, no description available

  • Male breast tumour

    Sorry, no description available

  • Malignant neoplasia

    Sorry, no description available

  • Malignant pleural neoplasia

    Sorry, no description available

  • Mallet finger

    Sorry, no description available

  • Malnutrition

    Sorry, no description available

  • Mammary hypoplasia

    Sorry, no description available

  • Mammary nodules

    Sorry, no description available

  • Mammograms

    Sorry, no description available

  • Mammography

    Sorry, no description available

  • Mandibular joint

    Sorry, no description available

  • Manipulative therapy

    Sorry, no description available

  • Manual and mechanical spinal traction

    Sorry, no description available

  • Maple syrup urine disease

    Maple syrup urine disease (MSUD) is a rare inherited disorder of branched-chain amino acid metabolism classically characterized by poor feeding, lethargy, vomiting and a maple syrup odor in the cerumen (and later in urine) noted soon after birth, followed by progressive encephalopathy and central respiratory failure if untreated. The four overlapping phenotypic subtypes are: classic, intermediate, intermittent and thiamine-responsive MSUD.


    Fonte: http://www.orpha.net

  • Marburg virus disease

    Marburg virus disease (MVD) (formerly known as Marburg haemorrhagic fever) is a severe and highly fatal disease caused by a virus from the same family as the one that causes Ebola virus disease. These viruses are among the most virulent pathogens known to infect humans.


    Fonte: http://www.who.int/csr/disease/marburg/en/

  • Marfan syndrome

    Sorry, no description available

  • Marginal corneal ulcers

    Sorry, no description available

  • Marinesco-sjögren syndrome

    Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.


    Fonte: http://www.orpha.net

  • Marks (solar lentigo or liver spots)

    Sorry, no description available

  • Marshall syndrome

    Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.


    Fonte: http://www.orpha.net

  • Marshall-smith syndrome

    Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.


    Fonte: http://www.orpha.net

  • Mastectomy

    Sorry, no description available

  • Mastocytosis

    Sorry, no description available

  • Maternal infant prevention and birth pathway

    Sorry, no description available

  • Maxilla atrophy

    Sorry, no description available

  • Maxillary cysts

    Sorry, no description available

  • Maxillary tumours

    Sorry, no description available

  • Maxillofacial surgery

    Sorry, no description available

  • May–thurner syndrome

    Sorry, no description available

  • Mccune-albright syndrome

    McCune-Albright syndrome (MAS) is classically defined by the clinical triad of fibrous dysplasia of bone (FD), café-au-lait skin spots, and precocious puberty (PP).


    Fonte: http://www.orpha.net

  • Measles

    Measles is an acute viral respiratory illness. It is characterized by a prodrome of fever (as high as 105°F) and malaise, cough, coryza, and conjunctivitis -the three “C”s -, a pathognomonic enanthema (Koplik spots) followed by a maculopapular rash. The rash usually appears about 14 days after a person is exposed. The rash spreads from the head to the trunk to the lower extremities. 


    Fonte: https://www.cdc.gov/measles/index.html

  • Measurement of colon transit time

    Sorry, no description available

  • Mechanical ventilation

    Sorry, no description available

  • Meckel syndrome

    Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation mainly occipital encephalocele (see this term), large polycystic kidneys, and polydactyly as well as associated abnormalities that may include cleft lip/palate (see these terms), cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.


    Fonte: http://www.orpha.net

  • Median cysts

    Sorry, no description available

  • Mediastinal neoplasia

    Sorry, no description available

  • Mediastinal tumors

    Sorry, no description available

  • Mediastinoscopy

    Sorry, no description available

  • Medical therapy

    Sorry, no description available

  • Medical trichology

    Sorry, no description available

  • Medullary thyroid cancer

    Sorry, no description available

  • Medulloblastoma

    Sorry, no description available

  • Medulloepithelioma

    Sorry, no description available

  • Megaesophagus

    Sorry, no description available

  • Megaureter

    Sorry, no description available

  • Melanoma

    Sorry, no description available

  • Melas syndrome

    Sorry, no description available

  • Melioidosis

    Melioidosis is a bacterial zoonosis caused by the Gram-negative bacillus Burkholderia (Pseudomonas) pseudomallei, also called Whitmore bacillus. The infection can be acute, subacute, or chronic and affects the skin, the lungs, or the whole body.


    Fonte: http://www.orpha.net


  • Melkersson–rosenthal syndrome

    Sorry, no description available

  • Memory center

    Sorry, no description available

  • Memory disorders

    Sorry, no description available

  • Memory test

    Sorry, no description available

  • Meningioma

    Sorry, no description available

  • Meningitis

    Meningitis is an inflammation (swelling) of the protective membranes covering the brain and spinal cord. A bacterial or viral infection of the fluid surrounding the brain and spinal cord usually causes the swelling. However, injuries, cancer, certain drugs, and other types of infections also can cause meningitis. It is important to know the specific cause of meningitis because the treatment differs depending on the cause.


    Fonte: https://www.cdc.gov/meningitis/index.html

  • Meningococcal meningitis

    Meningococcal meningitis is an acute bacterial disease caused by Neisseria meningitides that presents usually but not always with a rash (non blanching petechial or purpuric rash), progressively developing signs of meningitis (fever, vomiting, headache, photophobia, and neck stiffness) and later leading to confusion, delirium and drowsiness. Neck stiffness and photophobia are often absent in infants and young children who may manifest nonspecific signs such as irritability, inconsolable crying, poor feeding, and a bulging fontanel. Meningococcal meningitis may also present as part of early or late onset sepsis in neonates. The disease is potentially fatal. Surviving patients may develop neurological sequelae that include sensorineural hearing loss, seizures, spasticity, attention deficits and intellectual disability.


    Fonte: http://www.orpha.net

  • Meniscal diseases

    Sorry, no description available

  • Meniscus tear

    Sorry, no description available

  • Menkes disease

    Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.


    Fonte: http://www.orpha.net

  • Menopause disorders

    Sorry, no description available

  • Menopause screening

    Sorry, no description available

  • Merrf syndrome

    Sorry, no description available

  • Mesothelioma

    Sorry, no description available

  • Metabolic bone disease

    Sorry, no description available

  • Metabolic bone diseases

    Sorry, no description available

  • Metabolic bone diseases

    Sorry, no description available

  • Metabolic complications

    Sorry, no description available

  • Metabolic disorders

    Sorry, no description available

  • Metabolic disorders

    Sorry, no description available

  • Metabolic endocrine surgery

    Sorry, no description available

  • Metabolic hepatopathy

    Sorry, no description available

  • Metabolic osteopathy

    Sorry, no description available

  • Metabolic syndrome

    Sorry, no description available

  • Metabolism and amino acid transporters orders

    Sorry, no description available

  • Metachromatic leukodystrophy

    Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disorder characterized byintralysosomal accumulation of sulfatides in various tissues, leading to progressive deterioration of motor and neurocognitive function.


    Fonte: http://www.orpha.net

  • Metastatic breast cancer

    Sorry, no description available

  • Metastatic colorectal cancer

    Sorry, no description available

  • Metastatic neoplastic disease

    Sorry, no description available

  • Metatarsalgia

    Sorry, no description available

  • Methemoglobinemia (methemoglobin reductase deficiency)

    Sorry, no description available

  • Methionine malabsorption syndrome

    Sorry, no description available

  • Methylmalonic acidemia

    Sorry, no description available

  • Methylmalonic acidemia with homocystinuria

    Sorry, no description available

  • Microbiological test

    Sorry, no description available

  • Microbiology

    Sorry, no description available

  • Microcrystalline arthritis

    Sorry, no description available

  • Microscopic polyangiitis

    Sorry, no description available

  • Microvillus inclusion disease

    Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea.


    Fonte: https://ghr.nlm.nih.gov/condition/microvillus-inclusion-disease

  • Middle ear reconstruction

    Sorry, no description available

  • Mini-invasive surgery

    Sorry, no description available

  • Mini-invasive vitrectomy

    Sorry, no description available

  • Minor cognitive impairment

    Sorry, no description available

  • Miscellaneous nutritional diseases

    Sorry, no description available

  • Mitochondrial disease

    Sorry, no description available

  • Mitochondrial diseases

    Sorry, no description available

  • Mitochondriopathies

    Sorry, no description available

  • Mitral insufficiency

    Sorry, no description available

  • Mitral valve disease

    Sorry, no description available

  • Mitral valve surgery

    Sorry, no description available

  • Mitral valvulopathy

    Sorry, no description available

  • Mixed anxiety-depressive disorder

    Sorry, no description available

  • Mixed connective tissue disease

    Sorry, no description available

  • Mixed cryoglobulinemia

    Sorry, no description available

  • Mobbing

    Sorry, no description available

  • Moebius syndrome

    Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.


    Fonte: http://www.orpha.net

  • Mole checking and melanoma prevention

    Sorry, no description available

  • Molecular biology

    Sorry, no description available

  • Molluscum contagiosum

    Sorry, no description available

  • Monomelic amyotrophy


    Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.

    Fonte: www.orpha.net

  • Mood disorders

    Sorry, no description available

  • Morbid conditions originating in perinatal period

    Sorry, no description available

  • Morton's neuroma

    Sorry, no description available

  • Motor evoked potential

    Sorry, no description available

  • Motor neurone

    Sorry, no description available

  • Motor neurone diseases

    Sorry, no description available

  • Motor rehabilitation methods and techniques

    Sorry, no description available

  • Movement disorders

    Sorry, no description available

  • Mra of the chest

    Sorry, no description available

  • Mra of the lower abdomen

    Sorry, no description available

  • Mra of the neck

    Sorry, no description available

  • Mra of the upper abdomen

    Sorry, no description available

  • Mri

    Sorry, no description available

  • Muckle-wells syndrome

    Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).


    Fonte: http://www.orpha.net

  • Mucolipidoses

    Sorry, no description available

  • Mucopolysaccharidosis

    Sorry, no description available

  • Mucopolysaccharidosis type i

    Sorry, no description available

  • Mucous membrane injuries

    Sorry, no description available

  • Multilater spinal cat

    Sorry, no description available

  • Multiminicore myopathy

    Multiminicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy.


    Fonte: http://www.orpha.net

  • Multinodular goitre

    Sorry, no description available

  • Multiple complex disorders

    Sorry, no description available

  • Multiple endocrine neoplasia (men)

    Sorry, no description available

  • Multiple endocrine neoplasia syndromes

    Sorry, no description available

  • Multiple myeloma

    Sorry, no description available

  • Multiple neurofibroma

    Sorry, no description available

  • Multiple organ failure

    Sorry, no description available

  • Multiple sclerosis

    Sorry, no description available

  • Multiple sclerosis clinic

    Sorry, no description available

  • Multiple system atrophy (msa)


    Multiple system atrophy (MSA) is a rare, degenerative neurological disorder affecting your body's involuntary (autonomic) functions, including blood pressure, breathing, bladder function and muscle control. Formerly called Shy-Drager syndrome, MSA shares many Parkinson's disease-like symptoms, such as slow movement, rigid muscles and poor balance. Treatment includes medications and lifestyle changes to help manage symptoms, but there is no cure. The condition progresses gradually and eventually leads to death.


    Fonte: http://www.mayoclinic.org/diseases-conditions/multiple-system-atrophy/home/ovc-20323392

  • Murray valley encephalitis virus


    Australian encephalitis, or Murray Valley encephalitis are synonyms for a clinical syndrome caused by infection with Murray Valley encephalitis (MVE) virus or Kunjin (KUN) virus. Symptoms are variable, from mild to severe with permanent impaired neurological functions, to sometimes fatal. Mosquito avoidance measures are the best form of prevention. 


    Fonte: http://medent.usyd.edu.au/fact/murray%20valley%20encephalitis%20and%20kunjin.htm



  • Muscle and ligament tears

    Sorry, no description available

  • Muscle and tendon injuries

    Sorry, no description available

  • Muscle atrophies

    Sorry, no description available

  • Muscle disorders

    Sorry, no description available

  • Muscle injuries

    Sorry, no description available

  • Muscle spasms

    Sorry, no description available

  • Muscle, tendon and ligament soft tissue injuries

    Sorry, no description available

  • Muscular dystrophies

    Sorry, no description available

  • Musculo skeletal pain

    Sorry, no description available

  • Musculoskeletal mri

    Sorry, no description available

  • Music therapy

    Sorry, no description available

  • Musicians’ pathologies

    Sorry, no description available

  • Myasthenia

    Sorry, no description available

  • Mycological examination

    Sorry, no description available

  • Myelodysplastic syndrome

    Sorry, no description available

  • Myelodysplastic syndromes

    Sorry, no description available

  • Myelography

    Sorry, no description available

  • Myeloma

    Myeloma is cancer of the plasma cells. Plasma cells are white blood cells that produce disease- and infection-fighting antibodies in your body. Myeloma cells prevent the normal production of antibodies, leaving your body's immune system weakened and susceptible to infection. The multiplication of myeloma cells also interferes with the normal production and function of red and white blood cells. An abnormally high amount of these dysfunctional antibodies in the bloodstream can cause kidney damage. Additionally, the myeloma cells commonly produce substances that cause bone destruction, leading to bone pain and/or fractures. Myeloma cells are produced in the bone marrow, the soft tissue inside your bones.


    Fonte: http://www.hematology.org/Patients/Cancers/Myeloma.aspx

  • Myelopathy

    Sorry, no description available

  • Myeloproliferative syndromes

    Sorry, no description available

  • Myeloradiculopathy

    Sorry, no description available

  • Myocardial ischaemia provocative test

    Sorry, no description available

  • Myocardial perfusion spect or pharmacologic stress test

    Sorry, no description available

  • Myocarditis

    Sorry, no description available

  • Myofascial pains

    Sorry, no description available

  • Myofibrillar myopathy

    Myofibrillar myopathy (MFM) describes a group of skeletal and cardiac muscle disorders, defined by the disintegration of myofibrils and aggregation of degradation products into intracellular inclusions, and is typically clinically characterized by slowly-progressive muscle weakness, which initially involves the distal muscles, but is highly variable and that can affect the proximal muscles as well as the cardiac and respiratory muscles in some patients.


    Fonte: http://www.orpha.net

  • Myogenic evoked potential

    Sorry, no description available

  • Myopathies

    Sorry, no description available

  • Myopia

    Sorry, no description available

  • Myositis

    Sorry, no description available

  • Myotendinous trauma

    Sorry, no description available

  • Myotonic dystrophies


    Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw.

    Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family.

    There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes. A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, is apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.


    Fonte: https://ghr.nlm.nih.gov/condition/myotonic-dystrophy#synonyms


  • Myotonic dystrophy type 1


    Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. The clinical findings, which span a continuum from mild to severe, have been categorized into three somewhat overlapping phenotypes: mild, classic, and .


    Fonte: https://www.ncbi.nlm.nih.gov/books/NBK1165/


  • Myotonic dystrophy type 2


    Myotonic dystrophy type 2 (DM2) is characterized by myotonia (90% of individuals) and muscle dysfunction (weakness, pain, and stiffness) (82%), and less commonly by cardiac conduction defects, iridescent posterior subcapsular cataracts, insulin-insensitive type 2 diabetes mellitus, and testicular failure. Although myotonia (involuntary muscle contraction with delayed relaxation) has been reported during the first decade, onset is typically in the third decade, most commonly with fluctuating or episodic muscle pain that can be debilitating and weakness of the neck flexors and finger flexors. Subsequently, weakness occurs in the elbow extensors and the hip flexors and extensors. Facial weakness and weakness of the ankle dorsiflexors are less common. Myotonia rarely causes severe symptoms.


    Fonte: https://www.ncbi.nlm.nih.gov/books/NBK1466/


  • Myotonic dystrophy type 2

    Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. 


    Fonte: https://rarediseases.info.nih.gov/diseases/9728/myotonic-dystrophy-type-2

  • Myotubular myopathy

    X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.


    Fonte: http://www.orpha.net

  • N

  • Nager syndrome

    Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.


    Fonte: http://www.orpha.net

  • Nail-patella syndrome

    Nail-patella syndrome is characterized by abnormalities of the nails, knees, elbows, and pelvis. The features of nail-patella syndrome vary in severity between affected individuals, even among members of the same family.


    Fonte: https://ghr.nlm.nih.gov/condition/nail-patella-syndrome

  • Nance-horan syndrome

    Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.


    Fonte: http://www.orpha.net

  • Narcolepsy

    Sorry, no description available

  • Nasal allergen challenge test

    Sorry, no description available

  • Nasal and paranasal sinus neoplasia

    Sorry, no description available

  • Nasal biopsy

    Sorry, no description available

  • Nasal dysmorphism

    Sorry, no description available

  • Nasal endoscopy

    Sorry, no description available

  • Nasal fractures

    Sorry, no description available

  • Nasal polyps

    Sorry, no description available

  • Nasal septum deviation

    Sorry, no description available

  • Nasopharyngeal neoplasia

    Sorry, no description available

  • Nasu-hakola disease

    Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.


    Fonte: http://www.orpha.net

  • Neck cat

    Sorry, no description available

  • Neck mri

    Sorry, no description available

  • Neck pain

    Sorry, no description available

  • Neck pathology

    Sorry, no description available

  • Neck ultrasound

    Sorry, no description available

  • Necrosis

    Sorry, no description available

  • Necrotising herpes zoster

    Sorry, no description available

  • Nemaline myopathy

    Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy.


    Fonte: http://www.orpha.net

  • Neonatal cholestasis

    Sorry, no description available