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| A rare, life-threatening, cutaneous disease characterized by a keratinocytic epidermal nevus presenting thick, hystrix-like, white or brownish hyperkeratosis associated with multiple extracutaneous vascular malformations, including angiodysplasia that involves large-vessel arteriovenous shunts that may be fatal during the neonatal period. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| New-onset refractory status epilepticus is an acute encephalopathy with inflammation-mediated status epilepticus characterized by an acute refractory status epilepticus, typically of the tonic-clonic type, following prodromal symptoms of confusion, fever, fatigue, headache, symptoms of gastrointestinal or upper respiratory tract infection, behavioral changes or hallucinations. Brain MRI abnormalities and abnormal findings in CSF, including pleocytosis and/or elevated protein levels, are frequently found during acute episode. Treatment-resistant epilepsy, cognitive and psychiatric impairments are usual consequences. |
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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/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare T-cell non-Hodgkin lymphoma characterised by generalised lymphadenopathy and predominantly follicular or perifollicular growth pattern, consistent with the expression of T-follicular helper markers. Affected individuals distinctly lack histologic features (such as proliferation of high endothelial venules and expanded follicular dendritic meshworks) typically associated to angioimmunoblastic T-cell lymphoma. It affects elderly individuals (mostly at the sixth decade of life) that present with advanced-stage disease. Majority of the cases have disseminated nodal involvement, whereas involvement of extranodal sites including skin, liver, spleen and bone marrow are also reported. Patients may therefore develop skin rash and immune manifestations. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Nodal marginal zone B-cell lymphoma is a rare, indolent B-cell non-Hodgkin lymphoma, characterized by abnormal clonal proliferation of mature B-lymphocytes with involvement of the lymph nodes, sometimes the bone marrow, and rarely the blood. Clinically it presents with disseminated peripheral, abdominal and/or thoracic lymphadenopathy. Cytopenia and bulky tumors (greater than 5 cm) are rare. Association with Hepatitis C virus and chronic inflammation has been reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Nodular lichen myxedematosus is a rare form of localized lichen myxedematosus characterized by the development of skin-coloured mucinous nodules on the limbs and trunk, with mild or absent papular eruption. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricle, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Idiopathic copper-associated cirrhosis is a rare copper-overload liver disease characterized by a rapidly progressive liver cirrhosis from the first few years of life leading to hepatic insufficiency and harboring a specific pathological aspect: pericellular fibrosis, inflammatory infiltration, hepatocyte necrosis, absence of steatosis, poor regeneration and histochemical copper staining. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Non-amyloid fibrillary glomerulopathy (non-amyloid FGP) is a rare cause of glomerulonephritis (GN) characterized by glomerular accumulation of non-amyloid fibrils in the mesangium and the glomerular (and rarely tubular) basement membrane, that mainly presents with renal insufficiency, micro-hematuria and nephrotic range proteinuria. Non-amyloid FGP and immunotactoid glomerulopathy are often grouped together as pathogenetically related diseases. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, secondary glomerular disease characterized by proteinuria, dysproteinemias, nephrotic syndrome, and nodular glomerulopathy leading to renal failure, with or without extra-renal manifestations. The renal biopsy shows typical deposits of monoclonal immunoglobulins that do not show a fibrillar organization and are negative for Congo red staining. Associated signs and symptoms depend on the involvement of other organs, liver, heart, nerve fibers, gastrointestinal tract, or skin. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Noneruption of teeth - maxillary hypoplasia - genu valgum is an extremely rare syndrome that is characterized by multiple unerupted permanent teeth, hypoplasia of the alveolar process and of the maxillo-zygomatic region, severe genu valgum and deformed ears. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neuroendocrine tumor of pancreas characterized by a well-differentiated epithelial pancreatic neuroendocrine neoplasm measuring at least 0.5 cm, without distinct hormonal syndrome. Tumors <0.5 cm are called microadenomas. Microadenomatosis is the multifocal occurrence of microadenomas. Histopathologic examination shows an organoid growth pattern and expression of synaptophysin and chromogranin A on immunohistochemistry. Tumors are often discovered incidentally, or patients may present with symptoms related to local or metastatic tumor spread. Microadenomas are considered benign, while larger tumors may behave in a malignant manner with extrapancreatic spread, metastasis, or recurrence. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neuroendocrine tumor arising from neural crest-derived paraganglion cells (most often in the para-aortic region at the level of renal hilum, organ of Zuckerkandl, thoracic paraspinal region, bladder, and carotid body) not associated with catecholamine secretion. These tumors are usually clinically silent and symptoms, if present, are nonspecific and depend on the location of the tumor. Association with certain hereditary cancer-predisposing syndromes, such as multiple endocrine neoplasia, neurofibromatosis type 1 or von Hippel Lindau syndrome, may be observed. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare gastroesophageal disease characterized by diffusely enlarged gastric folds, excessive mucus secretion, normal serum protein and gastric TGF-alpha levels. Patients typically present anemia, abdominal pain not related to eating or bowel habits and absence of peripheral edema. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial disease characterized by a distinctive MRI pattern of cavitating leukodystrophy, predominantly in the posterior region of the cerebral hemispheres. The clinical picture varies widely between acute neurometabolic decompensation in infancy with loss of developmental milestones, seizures, and pyramidal signs rapidly evolving into spastic tetraparesis, to subtle neurological symptoms presenting in adolescence. The disease course tends to stabilize over time in most patients, and marked recovery of milestones may be observed. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare acquired peripheral neuropathy characterized by paresis of the supraspinatus, infraspinatus, deltoid, and biceps muscles (in C5-C6 injury), wrist and finger extensor muscles (C7 injury), or impaired hand function (C8-Th1 injury) on the affected side due to a traction lesion of the brachial plexus during delivery. The upper trunk of the brachial plexus is most commonly affected, while isolated injury to the lower trunk is very rare. Potential sequelae of brachial plexus injury are muscle atrophy, pain, sensory deficits, and secondary deformities. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare form of limited dorsal myeloschisis (LDM), with characteristics of a non-saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to the cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic intellectual disability characterised by the association of intellectual disability with variable other anomalies in the absence of a well-characterised syndrome. Associated abnormalities may include facial dysmorphism, neurological signs and symptoms, behavioural problems, and abnormalities of various other organ systems. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and metopic sutures, resulting in brachycephaly and trigonocephaly. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the bicoronal and sagittal sutures. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic multisutural craniosynostosis characterised by bilateral premature fusion of the lambdoid sutures, resulting in flattening and widening of the entire occipital region, with compensatory bossing of the vertex region (giving the cranium an elongated shape), and anterior-posterior displacement of the ears. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare non-syndromic oesophageal malformation characterised by intrinsic narrowing of the oesophagus, caused by congenital malformation of oesophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Oesophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the metopic and sagittal sutures, resulting in trigonocephaly and scaphocephaly but with mild frontal bossing. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Isolated trigonocephaly is a nonsyndromic form of craniosynostosis characterised by the premature fusion of the metopic suture. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic multisutural craniosynostosis characterised by premature fusion of the unicoronal and sagittal sutures, resulting in anterior plagiocephaly with contralateral frontal bulging and elongated head shape (turricephaly). Orbital abnormality and strabismus are associated features. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic unisutural craniosynostosis characterised by the premature fusion of the suture between the frontal and sphenoid bones of the newborn, leading to frontal flattening and asymmetry of the forehead with recession of the supraorbital rim on the fused side of the head. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two lambdoid sutures, resulting in ipsilateral occipitoparietal flattening, contralateral parietal and frontal bossing, occipitomastoid bulge, and posterior-inferior displacement of the ipsilateral ear. The skull appears trapezoid from above, while the face is typically C-shaped with ipsilateral convexity. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of non-syndromic unisutural craniosynostosis characterized by premature fusion of one of the two squamosal sutures. Most cases of isolated unilateral squamosal craniosynostosis are normocephalic. The risk of increased intracranial pressure is low. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare closed spinal dysraphism with characteristics of myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, polymalformative syndrome characterized by a Noonan-like phenotype associated with increased risk of developing juvenile myelomonocytic leukemia (JMML). The Noonan-like (NS) phenotype includes dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), developmental delay, hypotonia and small head circumference. It can be associated with congenital heart defects or cardiomyopathy, ectodermal anomalies, and short stature. The NS phenotype is subtle or even inapparent in a large proportion of subjects but may occasionally be severe. Leukemia can be the only clinical manifestation of the syndrome. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare tumor characterized by a rapidly growing mass usually arising along the midline, defined by the presence of NUTM1 rearrangements. Histopathological examination shows a poorly differentiated carcinoma, often with evidence of squamous differentiation. Patients present with unspecific signs and symptoms due to mass effect, depending on the location. Extensive local invasion of adjacent structures, lymph node involvement, and distant metastatic disease are often present at the time of diagnosis. Prognosis is generally poor. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare acquired motor neuron disease with characteristics of an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic form of obesity characterized by severe early-onset obesity, hyperphagia, and variable presence of cognitive impairment and behavioral disorder, including autistic spectrum behavior, impaired concentration and memory deficit. Some patients present with Prader-Willi-like features such as hypotonia, developmental delay, intellectual disability, short stature, hypopituitarism and dysmorphic facial features. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic form of obesity characterized by morbid obesity, hypertension, type 2 diabetes mellitus and dyslipidemia leading to early coronary disease, myocardial infarction and congestive heart failure. Intellectual disability and decreased sperm count or azoospermia have also been reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, non-syndromic, obesity disease characterized by severe, early-onset obesity, associated with major hyperphagia and endocrine abnormalities, resulting from leptin receptor deficiency. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterized by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinemia, in the presence of preserved reproductive function. |
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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 early onset of severe intractable diarrhea and intestinal malabsorption, followed by obesity and hormonal deficiencies due to insufficient activation of several prohormones, resulting in hypocortisolism, hypothyroidism, diabetes insipidus, hypogonadism, growth deficiency, and diabetes mellitus. Extent and age of onset of hormone deficiencies are variable between patients. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, cerebral malformation characterized by the presence of cortical smoothening with loss of secondary and tertiary gyri, associated with an excessive number of small, irregular gyri with increased cortical thickness, located in the occipital lobes. Patients usually present with seizures (including myoclonic-astatic, absence, atypical absence, vision loss, myoclonic-atonic, generalized tonic-clonic) and variable (absent to moderate) developmental and/or intellectual delay. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Occult macular dystrophy is a rare, genetic retinal dystrophy disease characterized by bilateral progressive decline of visual acuity, due to retinal dysfunction confined only to the macula, associated with normal fundus and fluorescein angiograms and severly attenuated focal macular and multifocal electroretinograms. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial disease characterized by signs and symptoms within a phenotypic and metabolic spectrum that includes global developmental delay, hypotonia, intellectual disability, optic atrophy, axonal neuropathy, hypertrophic cardiomyopathy, lactic acidosis, and increased excretion of Krebs cycle intermediates. Other variable features are spasticity, seizures, ataxia, congenital cataract, and dysmorphic facial features. Age of onset is in the neonatal period or infancy. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital malformation syndrome, most commonly presenting with hemifacial microsomia associated with ear and/or eye malformations and vertebral anomalies of variable severity. Additional malformations involving the heart, kidneys, central nervous, digestive and skeletal systems may also be associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oculoauricular syndrome, Schorderet type is a rare, genetic developmental defect during embryogenesis syndrome characterized by various ophthalmic anomalies (including congenital microphthalmia, microcornea, cataract, anterior segment dysgenesis, ocular coloboma and early onset rod-cone dystrophy) and abnormal external ears (low-set pinna with crumpled helix, narrow intertragic incisures, abnormal bridge connecting the crus of the helix and the antihelix, narrow external acoustic meatus, and lobule aplasia). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, syndromic intellectual disability characterized by severe intellectual disability, distinctive craniofacial features and variable multiple congenital anomalies including ocular, brain, urogenital and skeletal abnormalities. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of oculocutaneous albinism (OCA) characterized by a spectrum of hypopigmentation of skin hair and eyes, ranging from little or no pigmentation to localized pigmentation. Nystagmus, photophobia and reduced visual acuity are frequently present. The subtypes include OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of oculocutaneous albinism characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of oculocutaneous albinism characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally. Patients have been reported only in a consanguineous Pakistani family. The responsible gene has not yet been detected. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation (light blond to dark brown), nystagmus, iris transillumination, visual acuity ranging from 6/9 to 3/60 and hypopigmentation of the peripheral ocular fundus. Photophobia is not a major feature. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oculocutaneous albinism type 8 (disorder) |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction. |
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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 characterised by eye abnormalities (including unilateral/bilateral microphthalmia, coloboma, unilateral ptosis and lens opacity) in addition to failure to thrive, renal anomalies (mainly horseshoe kidney, however ureteral-pelvic junction dysfunction and vesicoureteral reflux were also reported), imperforate anus and global developmental delay. Majority of the patients also present with hearing impairment, cardiac anomalies and dysmorphic features (triangular face, hypoplastic alae nasi, beaked nose, and small pointed chin). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies/dysmorphic syndrome characterized by short stature and particularly pronounced shortening of the third to fifth metacarpals and metatarsals, congenital anodontia, sparse hair, dyspigmentation of the skin, hypoplastic nipples and underdeveloped external genitals in females, and multiple ocular abnormalities (such as distichiasis, strabismus, nystagmus, lenticular opacities, and severe myopia, among others). Dysmorphic craniofacial features include brachycephaly, downslanting palpebral fissures, broad nasal root, low-set ears, and small maxilla and prominent mandible. There have been no further descriptions in the literature since 1968. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic neuromuscular disease characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. Respiratory muscle involvement is common, but sensorineural hearing loss, asymmetrical extremity weakness and severe proximal weakness are rare. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare ectodermal dysplasia syndrome characterized by bilateral retinitis pigmentosa, trichodysplasia (generalized hypotrichosis, structural changes), dental anomalies, onychodysplasia, and dry and scaly skin. There have been no further descriptions in the literature since 1988. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare ectodermal dysplasia syndrome characterized by neonatal teeth, trichodystrophy (with straw-like, discolored and fragile hair), onychodystrophy, and malformation of the hands and feet consisting of simian-like hands with transverse palmar creases and prominent interdigital folds, brachydactyly, and marked shortness of the first metacarpal and metatarsal bones with hypoplasia of the distal phalanges. There have been no further descriptions in the literature since 1997. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Odontoma-dysphagia syndrome is a malformation syndrome, characterized by odontomas (undifferentiated mass of the esophagus) and severe dysphagia. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare clinical situation occurring in the context of Parkinson disease characterized by return or worsening of symptoms (including motor and/or non-motor symptoms) under antiparkinsonian therapy. Types of off-periods are Morning Off (experienced before the first dose of the day), Delayed On (occurring more frequently after the first dose of the day or after meals), Wearing Off (end-of-dose deterioration), Sudden Off (sudden transition from on to off), and Dose Failure. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrythmias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare non-progressive form of cone photoreceptor dysfunction syndrome characterized by reduced visual acuity, normal fundus appearance and absent or reduced cone responses on electroretinography. In contrast to all other forms of cone dysfunction color vision is normal. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, benign, nail tumor originating in the nail matrix characterized by localized pachyonychia and variable degrees of pigmentation: pigmented, melanocytic (common, longitudinal melanonychia that may simulate a foreign body) or hypopigmented. Histopathology demonstrates a purely epithelial tumor with endokeratinization in the deep portion and concentrically arranged nests of prekeratogenous and keratogenous cells. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Onychomatricoma is a rare, benign nail tumor originating in the nail matrix characterized by localized or diffuse thickening of the nail plate, increased transverse or longitudinal overcurvature, a yellow longitudinal band of variable width, swelling of the proximal nail fold, multiple splinter hemorrhages and the presence of honeycomb-like cavities in the distal margin of the nail plate. Nail dystrophy and dorsal pterygium may be associated. Occasionally, a pigmented lesion has been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial disease characterized by a variable clinical phenotype with the core features of optic atrophy, ataxia, and hypotonia. Additional common manifestations include global developmental delay with or without regression, neuropathy, spasticity, and microcephaly, less frequently seizures, movement disorder, hearing loss, and respiratory failure. Brain imaging may show abnormalities of the corpus callosum, basal ganglia, and midbrain, cerebral or cerebellar atrophy, or white matter abnormalities. The condition is frequently fatal at an early age. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Optic atrophy-intellectual disability syndrome is a rare, hereditary, syndromic intellectual disability characterized by developmental delay, intellectual disability, and significant visual impairment due to optic nerve atrophy, optic nerve hypoplasia or cerebral visual impairment. Other common clinical signs and symptoms are hypotonia, oromotor dysfunction, seizures, autism spectrum disorder, and repetitive behaviors. Dysmorphic facial features are variable and nonspecific. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare ciliopathy characterized by oral anomalies (multiple oral frenula, missing incisors), facial dysmorphism (such as square face with small forehead, upslanting palpebral fissures, and cleft lip, among other features), digital anomalies (brachydactyly, brachymesophalangy, polydactyly), and short stature. Additional reported manifestations include short femoral neck, bilateral cervical ribs, abnormal vertebral bodies, and gracile long bones. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Orgasm-induced seizures is a rare neurologic disease characterized by complex partial seizures with or without secondary generalization, or idiopathic primarily generalized epilepsy, triggered by sexual orgasm. Seizures usually start immediately, shortly after or a few hours after the achievement of orgasm, last a few seconds or minutes, and are followed, in very rare cases, by intense migraine. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare orofaciodigital syndrome characterised by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
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