| Members |
languageDialectCode |
typeId |
value |
| A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, localized variant of Guillain-Barré syndrome characterized by rapidly progressive bilateral facial nerve palsy, distal paresthesias, and minimal or no motor weakness. Deep tendon reflexes are usually diminished or absent but can be present or even exaggerated in rare cases. CSF analysis may reveal albuminocytologic dissociation. Nerve conduction velocity studies often show demyelinating type of neuropathy, although axonal polyneuropathy has been also described. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by variable intellectual disability and/or developmental delay, epilepsy, generalised hypertrichosis, severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing, bushy and straight eyebrows, long eyelashes, low-set ears, deep/short philtrum, everted upper lip, prominent upper and lower vermilion, wide mouth, micrognathia, and retrognathia. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs. |
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 severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. 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 |
| Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial Alzheimer-like prion disease is an exceedingly rare form of prion disease characterized by the neuropathological features of Alzheimer disease including memory impairment and depression, related to abnormal prion protein (PrP) caused by a gene mutation in PRNP. Patients present with a prolonged, atypical course (absence of myoclonus or ataxia) unlike other forms of prion disease with severe neurofibrillary tangle pathology and high levels of cerebral amyloidosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial acute necrotising encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic neurological disorder characterized by very early sleep onset and offset. Plasma melatonin levels and body core temperature rhythms are also phase-advanced. The sleep-wake cycle is generally shortened. Additional reported features include migraine with or without aura and seasonal affective disorder. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic cardiac disease characterized by variably expressed atrial tachyarrhythmia (such as atrial flutter, paroxysmal or chronic atrial fibrillation, ectopic atrial tachycardia, or multifocal atrial tachycardia), infra-Hisian conduction system disease, and vulnerability to dilated cardiomyopathy. Age of onset ranges between childhood and adulthood. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial benign copper deficiency is a rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia, and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. 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 |
| Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lesions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, developmental defect during embryogenesis disorder characterized by varying degrees of caudal dysgenesis, ranging from a single umbilical artery or imperforate anus to full sirenomelia, in several members of the same family. Phenotype includes lumbosacral agenesis, anal atresia or ectopia, genitourinary abnormalities, components of VATER or VACTERL association, and facial dysmorphism (flat facies, abnormal ears, bilateral epicanthic folds, depressed nasal bridge, micrognathia). Additional features reported include cardiovascular (e.g. endocardial cushion defect, hypoplasia of pulmonary artery) and skeletal (kyphosis, hemipelvis) anomalies. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic eye disease characterized by congenital profound excavation of the optic nerve head with diminished visual field, in the absence of elevated intraocular pressure. Many patients lack a well-formed retinal artery and have multiple radial cilioretinal arteries instead. The condition is mostly bilateral, may worsen progressively, and is often complicated by serous macular detachment with profound visual loss. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare monogenic form of cutaneous lupus erythematosus characterised by infantile or childhood onset of cold-induced erythematous papules or plaques predominantly on the fingers, toes, nose, cheeks, and ears. Recurrent ulceration of the lesions may lead to necrotic tissue destruction and mutilation. Patients may experience ischaemia of the affected acral regions. Histological findings include cutaneous perivascular inflammatory infiltrates with deposits of immunoglobulins or complement. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic hyperlipidemia characterized by excessive increase in plasma triglyceride levels due to the accumulation of chylomicrons, which manifests biochemically as severe hypertriglyceridemia. Clinical manifestations include recurrent episodes of acute pancreatitis, abdominal pain, nausea, fatigue, diarrhea, hepatosplenomegaly, eruptive xanthomas, lipemia retinalis and failure to thrive. Children may be asymptomatic with later onset of symptoms. The condition is not associated with severe atherosclerosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare inherited cancer-predisposing syndrome characterized by the fulfilment of the Amsterdam criteria for hereditary nonpolyposis colorectal cancer (HNPCC) but without alterations, either somatic or germline, in the DNA mismatch repair (MMR) genes. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, otorhinolaryngological malformation characterized by congenital impatency of the nasolacrimal drainage system in various members of a family. Presentation is not specific and may include a uni- or bilateral medial canthal mass, dacryocystitis, nasal obstruction, periorbital cellulitis, and epiphora. Dacryocystocele and lacrimal puncta agenesis may be associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare familial cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic bone disease characterized by multifocal, painless, benign fibrocemento-osseous lesions of the jaws which expand progressively and can cause severe facial deformity. It usually manifests at an early age and is often associated with abnormalities of the long bones and pathologic fractures. Radiologically, the lesions are of mixed radiopaque/radiolucent appearance. Incomplete surgical removal may lead to more rapid growth of the residual lesion. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial glucocorticoid deficiency (FGD) is a group of primary adrenal insufficiencies characterized clinically by neonatal hyperpigmentation, hypoglycemia, failure to thrive, and recurrent infections, and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare familial hyperaldosteronism characterised by elevated aldosterone levels and low plasma renin activity, early-onset hypertension, and hypokalaemia. Developmental delay, learning disabilities, behavioural abnormalities, and attention deficit disorder are observed in some patients. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial hypercholanemia is a very rare genetic disorder characterized clinically by elevated serum bile acid concentrations, itching, and fat malabsorption reported in patients of Old Order Amish descent. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare autoinflammatory syndrome with immune deficiency characterised by recurrent infections (bacterial and viral) due to NCKAP1L mutations. Patients present with recurrent respiratory tract infections and recurrent pneumonia mostly causing bronchiectasis, bacteraemia, and meningitis. Patients also have systemic hyperinflammation which mostly presents with an atopic disease, hepatosplenomegaly, and lymphoproliferation. Cytokine overproduction, antibody abnormalities, elevated IgE levels and increased B cells are observed. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare inborn error of metabolism characterized by congenital hypertryptophanemia and hyperserotonemia. Patients are typically asymptomatic, although developmental delay, intellectual disability, and behavioral abnormalities, among others, have been reported in association. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital heart malformation of unknown etiology that is characterized by an extremely dilated right atrium, and that is usually asymptomatic and fortuitously discovered by echocardiography or chest radiography, and can be sometimes associated with other anomalies such as atrial arrhythmias (e.g. atrial flutter, atrial fibrillation, supraventricular tachycardia), severe tricuspid regurgitation, or atrial thrombus that could lead to potentially life-threatening thromboembolic complications. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial infantile bilateral striatal necrosis is the familial form of infantile bilateral striatal necrosis, a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial isolated arrhythmogenic right ventricular dysplasia (ARVC) is the familial autosomal dominant form of ARVC, a heart muscle disease characterized by life-threatening ventricular arrhythmias with left bundle branch block configuration that may manifest with palpitations, ventricular tachycardia, syncope and sudden fatal attacks, and that is due to dystrophy and fibro-fatty replacement of the right ventricular myocardium that may lead to right ventricular aneurysms. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial isolated clinodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by angulation of a digit in the radio-ulnar (coronal) plane, away from the axis of joint flexion-extension, in several members of a single family with no other associated manifestations. Deviation is usually bilateral and commonly involves the fifth finger. Affected digits present trapezoidal or delta-shaped phalanges on imaging. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterised by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare breast malformation disorder characterized by unilateral or bilateral, symmetrical or asymmetrical, uncontrolled, rapid and massive enlargement of the breast(s) in peripubertal females, occurring in various members of a family. Additional associated manifestations may include skin hyperemia, dilated subcutaneous veins, skin necrosis, kyphosis, lordosis and anonychia. Growth and development are otherwise normal. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial male limited precocious puberty (FMPP) is a gonadotropin-independent familial form of male-limited precocious puberty, generally presenting between 2-5 years of age as accelerated growth, early development of secondary sexual characteristics and reduced adult height. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degree relatives or more relatives in an affected family. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes micturition symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Benign familial mesial temporal lobe epilepsy is a rare epilepsy characterized by seizures with viscerosensory or experiential auras, onset in adolescence or early adulthood and good prognosis. It is defined as at least 24 months of seizure freedom with or without antiepileptic medication. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare thyroid disease characterized by familial occurrence of thyroid enlargement due to the development of multiple hyperplastic nodules with onset in childhood or adolescence. The condition is commonly associated with the development of other benign or malignant tumors. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial multiple meningioma is a rare, benign neoplasm of the central nervous system characterized by the development of multiple or, rarely, solitary meningiomas in two or more blood relatives, without other apparent syndromic manifestations. Depending on the localization, growth rate and size of the tumors, patients can present with subtle, gradually worsening or abrupt and severe neurological compromise or can be completely asymptomatic. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or FLCN gene locus mutation. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial multiple lipomatosis is a rare, benign, genetic skin disease characterized by numerous, painless, encapsulated lipomas located in the subcutaneous adipose tissue of the trunk and extremities, with relative sparing of the neck and shoulders. Association with gastroduodenal lipomatosis, brain anomalies or lipomatosis, and refractory epilepsy has been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial multiple nevi flammei is a rare, genetic capillary malformation disorder characterized by dark red to purple birthmarks which manifest as flat, sharply circumscribed cutaneous lesions, typically situated in the head and neck region, in various members of a single family. The lesions grow proportionally with the individual, change in color and often thicken with age. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial nasal acilia is a rare genetic otorhinolaryngologic disease characterized by respiratory morbidity due to lack of cilia on the respiratory tract epithelial cells. The disease manifests from birth with respiratory distress, neonatal pneumonia, dyspnea, lobar atelectasis and bronchiectasis. Recurrent infections of the upper and lower respiratory tract, chronic humid coughing, and chronic sinusitis, otitis and rhinitis are typical lifelong presenting conditions. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial partial lipodystrophy, Kobberling type, is a very rare form of familial partial lipodystrophy of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial patent arterial duct is a rare, genetic, non-syndromic, congenital anomaly of the great arteries characterized by the presence of an isolated patent arterial duct (PDA) (i.e. failure of closure of ductus arteriosis after birth) in several members of the same family. Clinical presentation is similar to the sporadic form and may range from neonatal-onset tachypnea, diaphoresis and failure to thrive to adult-onset atrial arrhythmia, signs and symptoms of heart failure and cyanosis limited to the lower extremities. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, constitutional thrombocytopenia disease characterized by mild to moderate thrombocytopenia, abnormal platelet function and a propensity to develop hematological malignancies, mainly of myeloid origin. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia, characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dyspigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic retinal disorder characterized by bilateral iris coloboma, progressive retinal dystrophy and marked loss of vision, with or without congenital cataracts. Iridolenticular adhesions, scattered retinal pigmented epithelia mottling, and mild hypermetropic astigmatism may be associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder with multisystemic involvement and glomerulopathy characterized by progressive steroid-resistant nephrotic syndrome typically associated with focal segmental glomerulosclerosis, as well as primary adrenal insufficiency with adrenal calcifications. Age of onset and disease course are variable, with some cases presenting as severe fetal hydrops, while most patients present in infancy or early childhood and progress to end-stage renal disease within a few years. Additional features include ichthyosis, primary hypothyroidism, hypogonadism, immunodeficiency, and neurological manifestations (such as cognitive impairment, ataxia, sensorineural hearing loss, or seizures). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial supernumerary nipple is a rare breast malformation characterized by the presence, in various members of a single family, of one or more nipple(s) and/or their related tissue, in addition to the normal bilateral chest nipples. The anomaly is usually situated along the embryonic milk line, from axillae to inguinal regions, but other locations are also possible. Association with dental abnormalities, Becker nevus, renal or underlying breast tissue malignancy and genitourinary malformations have been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare inherited form of thyroglossal duct cyst (TDC) characterized by a mass measuring 3 cm in diameter or less in the midline area of the neck. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Fatal infantile lactic acidosis with methylmalonic aciduria is a rare neurometabolic disease characterized by infantile onset of severe encephalomyopathy, lactic acidosis and elevated methylmalonic acid urinary excretion. Clinically it manifests with severe psychomotor delay, hypotonia, failure to thrive, feeding difficulties and dystonia. Epilepsy and multiple congenital anomalies may be associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, potentially fatal, epileptic encephalopathy characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic seizures following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or metabolic cause, in a patient without previous epilepsy. FIRES is a subgroup of new-onset refractory status epilepticus (NORSE) and requires a preceding febrile infection as a mandatory feature. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare intestinal disorder characterized by the inability to control the passage of rectal contents (feces, gas) through the anus following ileal pouch-anal anastomosis surgery. Fecal incontinence is usually more frequent during the night than during daytime. The condition generally worsens over time, with a significant negative impact on the quality of life of the patient. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic female infertility characterized by oocyte maturation arrest during any of the various stages of meiosis I or II. In some patients, first polar body oocytes may be retrieved, but these either show fertilization failure or early embryonic arrest. Affected women have regular menstrual cycles. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Female infertility due to zona pellucida defect is a rare, genetic, female infertility disorder characterized by the presence of abnormal oocytes that lack a zona pellucida. Affected individuals are unable to conceive despite having normal menstrual cycles and sex hormone levels, as well as no obstructions in the fallopian tubes or defects of the uterus or adnexa. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder of iron metabolism and transport characterized by elevated serum ferritin levels, increased serum iron, increased transferrin saturation, and heavy iron deposition in hepatocytes. Iron deposition has also been indicated in heart and bone marrow, while hematological examination of peripheral blood shows no abnormalities. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder of iron metabolism and transport characterised by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anaemia and elevated of serum ferritin levels. Ferroportin disease is distinct from haemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A malformation syndrome reported in offspring (children and grandchildren) of women exposed to diethylstilbestrol (DES) during pregnancy and is characterised by reproductive tract malformations, decreased fertility and increased risk of developing clear cell carcinoma of the vagina and cervix in young women. Reproductive malformations reported in DES syndrome include small, T-shaped uteri and other uterotubal anomalies that increase the risk of miscarriages in women and epididymal cysts, microphallus, cryptorchidism, or testicular hypoplasia in men. DES, a synthetic nonsteroidal estrogen was widely prescribed from 1940-1970 to prevent miscarriage. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Fetal iodine syndrome refers to symptoms and signs that may be observed in a fetus or newborn when the mother was exposed during pregnancy to inappropriate (insufficient or excessive) amounts of iodine. Iodine deficiency is associated with goiter and hypothyroidism. When severe iodine deficiency occurs during pregnancy, it is associated with congenital hypothyroidism that is manifested by increased neonatal morbi-mortality and severe mental dysfunction, hyperactivity, attention disorders and a substantial decrease of IQ of an irreversible nature. Excessive iodine ingestion during the third trimester of pregnancy can result in hypothyroidism and fetal goiter due to a prolonged inhibition of thyroid hormone synthesis, an increase in thyrotropin (TSH). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Fetal parvovirus syndrome is a fetopathy likely to occur when a pregnant woman is infected by parvovirus B19. In adults, the virus causes a butterfly erythema infectiosum (also called Fifth Disease; slapped cheek disease) and flu-like symptoms with symmetric polyarthralgias, which usually do not warrant prenatal diagnosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder related to monochorionic twin pregnancy characterized by unbalanced inter-twin blood transfusion with subsequent anemia in the donor and polycythemia in the recipient twin. Amniotic fluid abnormalities are absent. Doppler measurement of middle cerebral artery peak systolic velocities reveals significantly discordant velocities. The condition can occur spontaneously or complicate incomplete fetoscopic laser surgery. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
FHIR