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| A metabolic disorder characterized by prolonged apnea after the use of certain anesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anesthetics. The duration of the prolonged apnea varies significantly depending on the extent of the enzyme deficiency. It is caused by mutations in the BCHE located on chromosome 3 (3q26.1-3q26.2) and multiple atypical variants have been identified. The condition is transmitted as an autosomal recessive trait. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, capillary-venous malformations characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic cerebral small vessel disease characterized by amyloid deposition in the cerebral blood vessels leading to predominantly hemorrhagic strokes, focal neurological deficits, and progressive cognitive decline eventually leading to dementia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic coagulation disorder characterised by the usually incidental laboratory finding of a prolonged activated partial thromboplastin time (aPTT) but normal prothrombin time, due to a deficiency of normal prekallikrein or the presence of nonfunctional prekallikrein. Most patients remain clinically asymptomatic, although an association with cardiovascular conditions (hypertension, myocardial infarction, other coronary artery diseases, and ischaemic strokes) and venous thrombosis, as well as rare cases with increased bleeding tendency have been reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary cryohydrocytosis with normal stomatin is a rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Syndrome with characteristics of distal, slowly progressive muscular weakness, childhood-onset amyotrophy, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. It has been described in two sisters. Inheritance appears to be autosomal recessive. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhoea, dysphagia, and/or urinary tract infections. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary hypercarotenemia and vitamin A deficiency is an extremely rare metabolic disorder characterized clinically by skin discoloration, elevated levels of carotene and low levels of vitamin A described in fewer than 5 patients to date. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare hereditary disorder of renal phosphate wasting characterized by hypophosphatemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary hypotrichosis with recurrent skin vesicles is a very rare inherited hair loss disorder described in a family and characterized by sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axillae and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary inclusion body myopathy type 4 is a rare non-dystrophic myopathy characterized by slowly progressive muscular weakness and atrophy initially involving proximal lower limbs and hip girdle and later on shoulder girdle, proximal upper limbs and axial muscles. Ambulation is usually preserved. Congophilic inclusions with cytoplasmic inclusions of 15-21 nm filaments on electron microscopy are revealed in muscle biopsy. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic neuromuscular disease characterized by early onset of proximal or generalized muscle weakness, external ophthalmoplegia with or without ptosis, and joint contractures. Hypotonia, neonatal respiratory distress necessitating ventilation, and severe dysphagia have also been reported. The disease is of variable severity and non- or slowly progressive. Patients typically remain ambulatory. Muscle biopsy may show predominance of type 1 fibers, marked variability in fiber size, increased internal nuclei, and proliferation of perimysial and endomysial connective tissue. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion dependent. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary mixed polyposis syndrome (HMPS) describes an autosomal dominantly inherited large-bowel disease characterized by the presence of a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer if left untreated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary motor and sensory neuropathy type 5 is a rare axonal hereditary motor and sensory neuropathy characterized by slowly progressive distal muscle weakness and atrophy with or without sensory loss resulting in difficulty in walking, foot drop and pes cavus, that may be associated with pyramidal signs (extensor plantar responses, mild increase in tone, brisk tendon reflexes), muscle cramps, pain and spasticity. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary motor and sensory neuropathy with acrodystrophy is a rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic haematologic disease characterised by mild chronic haemolytic anaemia (due to highly elevated adenosine deaminase activity in red blood cells resulting in their premature destruction), elevated reticulocyte count, splenomegaly and mild hyperbilirubinaemia. Other cells and tissues are not affected. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis. The genotype is characterized by the combination of an HbS and HbF allele; symptoms depend on the degree of HbF:HbS expressivity with patients with more than 35% pancellular HbF expression being asymptomatic. Symptomatic patients have heterocellular expression of HbF. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, moderate to severe intellectual disability, language delay and asymptomatic persistence of fetal hemoglobin. Joint laxity and microcephaly are commonly observed. Majority of the patients present with variable dysmorphic features (including strabismus, downslanting palpebral fissures, anteverted nose with small nares and full tip, external ear anomalies, thin upper lip and everted lower lip). Behavior problems including anxiety, recurrent hand flapping/biting and attention deficit can also be observed. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, hereditary, pheochromocytoma/paraganglioma tumor arising from neuroendocrine chromaffin cells of the adrenal medulla (pheochromocytoma) or from any paraganglia from the skull base to the pelvic floor (paraganglioma). Clinical manifestations are often linked to excess catecholamines production causing sustained or paroxysmal elevations in blood pressure, headache, episodic profuse sweating, palpitations, pallor and apprehension or anxiety. Hereditary pheochromocytoma/paraganglioma tumors tend to present at younger ages, to be multi-focal, bilateral, and recurrent, or to have multiple synchronous neoplasms. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubé syndrome. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and mid dermis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, demyelinating hereditary motor and sensory neuropathy disorder characterized by slowly progressive, mild to moderate, distal muscle weakness and atrophy of the upper and lower limbs and variable distal sensory impairment, associated with variable hyperextensible skin and age-related macular degeneration. Hypermobility of distal joints, high palate, and minor skeletal abnormalities (e.g. pectus excavatum, dolichocephaly) may also be associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic peripheral neuropathy characterized by early hypotonia evolving to spastic paraparesis, areflexia, decreased pain and temperature sensitivity, autonomic neuropathy, gastroesophageal reflux disease, recurrent pneumonia and respiratory problems. Patients also have intellectual disability and dysmorphic features, including mild brachycephalic microcephaly, short broad neck, low anterior hairline and coarse face. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hereditary sensory and autonomic neuropathy, type 1B (HSAN1B) is characterized by the association of type 1 HSAN with paroxysmal cough and gastroesophageal reflux (GOR). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare hereditary sensory and autonomic neuropathy characterized by hypotonia in infancy, variable psychomotor retardation, markedly impaired pain sensitivity with poorly healing distal ulcerations and painless fractures leading to joint deformities and amputation of fingers and toes, altered deep tendon reflexes, and dysautonomic symptoms including hypohidrosis and heat intolerance, chronic diarrhea, pupillary abnormalities, or urinary incontinence. Sensorineural hearing loss has also been reported. The severity of the disease is highly variable, with severe cases being potentially lethal in infancy. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, periphery neuropathy characterized by a congenital insensitivity to pain, muscular hypotonia and gastrointestinal disturbances. Patients present with delayed motor milestones achievement, self-mutilations, skin ulcers, poor wound healing, painless fractures, hyperhidrosis, abdominal discomfort, diarrhea and/or constipation. Cognitive development is normal. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare autosomal recessive hereditary sensory and autonomic neuropathy characterized by congenital impaired sensation of acute or inflammatory pain in combination with an inability to identify noxious heat or cold, leading to numerous painless mutilating lesions and injuries. Further manifestations are absence of corneal reflexes resulting in corneal scarring, reduced sweating and tearing, and recurrent skin infections. Large-fiber sensory modalities such as light touch, vibration, and proprioception are normal. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| This syndrome is characterized by a sensory and autonomic axonal neuropathy, sensorineural hearing loss and persistent global developmental delay. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic neurological disorder characterized by infantile to childhood onset of progressive sensory neuropathy in association with spastic paraplegia and mutilating acropathy. Patients present lower limb spasticity and progressive severe sensory loss leading to chronic ulcerations in both upper and lower limbs. Electrophysiological studies are consistent with axonal sensory neuropathy, and nerve biopsy shows axonopathy with loss of myelinated nerve fibers of all diameters as well as of unmyelinated axons. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndromic constitutional thrombocytopenia characterized by thrombocytopenia with increased bleeding tendency (leading to epistaxis, menorrhagia, and petechiae), in combination with myelofibrosis and splenomegaly. Platelets may be abnormally large or small and partly hypo- or agranular, plasma thrombopoietin is elevated, and the number of megakaryocytes in the bone marrow increased. Additional non-hematologic manifestations have been described in some patients, including mild bone abnormalities and facial dysmorphism with large forehead, hypertelorism, deep-set eyes, and wide nostrils. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare superficial pemphigus disease characterized by severe intractable pruritus with erythematous or urticarial plaques and sometimes vesicles organized in a herpetiform pattern. Mucosae are generally spared. Eosinophilia in peripheral blood and low titers of circulating autoantibodies are observed in many cases. Histology can show an aspect of either pemphigus (superficial or deep), or an intraepidermal infiltrate rich in eosinophils (eosinophilic spongiosis). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hidrotic ectodermal dysplasia, Christianson-Fourie type is a rare ectodermal dysplasia syndrome characterized by tricho- and onychodysplasia in association with cardiac rhythm abnormalities. Patients present with sparse scalp hair and eyelashes, absent or sparse eyebrows, dystrophic thickened nails (on fingers distal end may be lifted from the nail bed) and supraventricular tachycardia or sinus bradycardia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| High bone mass osteogenesis imperfecta is a rare, genetic, primary bone dysplasia disorder characterized by increased bone fragility, manifesting with multiple, childhood-onset, vertebral and peripheral fractures, associated with increased bone mass density on radiometric examination. Patients typically present normal or mild short stature and dentinogenesis, hearing, and sclerae are commonly normal. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare aggressive B-cell non-Hodgkin lymphoma characterized by a rearrangement in MYC and BCL2 and/or BCL6 (so-called double-hit or triple-hit lymphoma). The category includes double-hit cases with features intermediate between diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma, blastoid cases with a double-hit, and cases with a DLBCL, not otherwise specified, morphology with a double-hit. It refers only to de novo cases, not to lymphomas with a history of pre-existing or coexistent indolent lymphoma. Patients typically present with widespread disease, including involvement of lymph nodes, bone marrow, and central nervous system. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| High-grade neuroendocrine carcinoma of the cervix uteri is a rare, aggressive, primary cervical neoplasm, originating from neuroendocrine cells present in the lining epithelium of the cervix, characterized, macroscopically, by usually large lesions, sometimes with a barrel-shaped appearance. Patients often present with abnormal vaginal bleeding or discharge, pelvic/abdominal pain, post-coital spotting and/or dysuria, while symptoms related to carcinoid syndrome are not frequent. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| High-grade neuroendocrine carcinoma of the corpus uteri is an extremely rare, aggressive, primary uterine neoplasm, originating from neuroendocrine cells scattered within the endometrium, characterized, macroscopically, by a bulky, frequently polypoid, mass with abundant necrosis located in the uterus and, histologically, by rosette-like and cord-like structures consisting of small, rounded cells with oval nuclei and scarce cytoplasm. Patients often present with dysfunctional uterine bleeding, pelvic or abdominal mass and, especially in later stages of the disease, abdominal pain. Symptomatic metastatic spread or symptoms related to a paraneoplastic syndrome, such as retinopathy, or Cushing syndrome due to ectopic ACTH production, may be associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare primary bone dysplasia characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), arthralgias of hips and knees, and occurrence of enchondromata and ecchondromata. There have been no further descriptions in the literature since 1971. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare cutaneous disease and a systemic inherited histiocytosis mainly characterised by hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycaemia/diabetes mellitus. Due to overlapping clinical features, it is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML). Some cases of dysosteosclerosis may also represent the syndrome. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Homocystinuria without methylmalonic aciduria is an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, encephalopathy and, sometimes, developmental delay, and associated with homocystinuria and hyperhomocysteinemia. There are three types of homocystinuria without methylmalonic aciduria; cblE, cblG and cblD-variant 1 (cblDv1). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hot water reflex epilepsy is a rare neurologic disease characterized by the onset of generalized or focal seizures following immersion of the head in hot water, or with hot water being poured over the head. Primary generalized tonic-clonic seizures have been reported in rare cases. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| House allergic alveolitis is a hypersensitivity pneumonitis resulting from the inhalation of an antigen to which an individual has been previously sensitized in his/her domestic environment. House allergic alveolitis encompasses summer hypersensitivity pneumonitis, humidifier-induced lung diseases, hot tub lung and legionellosis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare X-linked syndromic intellectual disability considered to be a severe variant of dyskeratosis congenita characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hughes-Stovin syndrome (HSS) is a life-threatening disorder, believed to be a cardiovascular clinical variant manifestation of Behcet disease. It is characterized by the association of multiple pulmonary artery aneurysms (PAAs) and peripheral venous thrombosis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hunter-McAlpine craniosynostosis is characterized by craniosynostosis, intellectual deficit, short stature, facial dysmorphism (oval face with almond-shaped palpebral fissures, droopy eyelids and a small nose) and minor distal anomalies. It has been described in 10 patients. Transmission is autosomal dominant and the syndrome is associated with partial duplication of the long arm of chromosome 5 (5q35-5qter). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, human prion disease characterized by adult-onset neurodegenerative manifestations associated with a movement disorder and psychiatric/behavioral disturbances. Patients typically present personality changes, aggressiveness, manias, anxiety and/or depression in conjunction with rapidly progressive cognitive decline (presenting with dysarthria, apraxia, aphasia, and eventually leading to dementia) as well as ataxia (manifesting with gait disturbances, unsteadiness, coordination problems), Parkinsonism, myoclonus, and/or chorea. Additional features may include generalized spasticity, seizures, urine incontinence and pyramidal abnormalities. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare severe neurodegenerative disorder that is considered one of the phenocopies of Huntington Disease (HD) affecting patients of African descent and characterized by a triad of movement (chorea, oculomotor, parkinsonism), psychiatric (prominently sadness, irritability and anxiety), and cognitive abnormalities (early cognitive decline and subcortical-like dementia). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Huntington disease-like 3 is a rare Huntington disease-like syndrome characterized by childhood-onset progressive neurologic deterioration with pyramidal and extrapyramidal abnormalities, chorea, dystonia, ataxia, gait instability, spasticity, seizures, mutism, and (on brain MRI) progressive frontal cortical atrophy and bilateral caudate atrophy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic disease characterised by infantile or childhood onset of abnormal growth of hyalinised fibrous tissue, giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp, ears, neck, face, hands, and feet. Involvement of other organs results in gingival hyperplasia, osteolytic bone lesions, and joint contractures. Some patients exhibit visceral involvement with intractable diarrhoea, increased susceptibility to infections, and severe failure to thrive. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterised by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial oedema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, renal malformation syndrome characterized by nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hydrolethalus (HLS) is a severe fetal malformation syndrome characterised by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial disease characterized by prenatal complications including oligohydramnios, fetal growth restriction, hydrops, and anemia, followed by severe lactic acidosis, hyaline membrane disease, pulmonary hypertension, cardiac anomalies, liver dysfunction, urogenital abnormalities and progressive renal disease, seizures, thrombocytopenia, and sideroblastic anemia resulting in multisystem organ failure and death shortly after birth. Less severely affected patients surviving the neonatal period and showing sensorineural hearing loss and developmental delay have been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, hereditary inborn error of metabolism characterized by an acute onset of encephalopathy in infancy or early childhood. Apart from these episodic acute events, the disorder shows a relatively benign course. Multiple metabolic abnormalities are present, including metabolic acidosis, respiratory alkalosis, hypoglycemia, increased serum lactate and alanine. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, endocrine disease characterized by defect in conversion of cortisone to active cortisol, resulting in ACTH-mediated excessive androgen release from adrenal glands. Premature adrenarche is typical with precocious pseudopuberty, proportionate tall stature and accelerated bone maturation in males, and hirsutism, oligoamenorrhea, central obesity and infertility in females. Imaging studies may indicate adrenal hyperplasia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
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