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| A rare non-syndromic cerebral malformation due to abnormal neuronal migration characterized by clusters of disorganized neurons in abnormal locations such as periventricular and subcortical. The extent of the lesions ranges from isolated single to bilateral confluent nodules. Pediatric patients typically show variable degrees of developmental delay, intellectual disability, and intractable epilepsy, and concomitant cerebral and/or systemic malformations are frequent. Milder forms may present with onset of seizures in adulthood. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurologic disease characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy with gluteofemoral fat loss, as well as increased fat accumulation in the face and trunk and visceral adiposity. Additional manifestations include diabetes mellitus, atherogenic dyslipidemia, eyelid xanthelasmas, arterial hypertension, cardiovascular disease, hepatic steatosis, acanthosis nigricans on axillae and neck, hirsutism, and muscular hypertrophy of the lower limbs. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital anomaly of the inferior vena cava characterized by the postnatal presence of a eustachian valve remnant, which may be asymptomatic and considered a normal variant or prominent and clinically significant. Clinical presentation is variable and includes obstruction of the inferior vena cava, cyanosis, thrombosis, pulmonary embolism, infective endocarditis, and when combined with persistent foramen ovale, it may generate permanent right-to-left shunt. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurological disease characterized by a generally deep, poorly localized, persistent facial pain that does not present characteristics of a cranial neuralgia and which cannot be attributed to another disorder. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital vascular malformation of the major vessels with characteristics of a persistent left superior vena cava that drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and this is discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolisation may be associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Persistent placoid maculopathy is characterized by white plaque-like lesions involving the macula but sparing the peripapillary areas of both eyes. It has been described in five patients. In contrast to patients with macular serpiginous choroiditis presenting with similar lesions, the five patients reported so far with persistent placoid maculopathy had good visual acuity until the onset of choroidal neovascularization (CNV) or pigmentary mottling. The macular lesions fade after several months or years, but the vascular anomalies persist leading to a loss of central vision. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Persistent polyclonal B-cell lymphocytosis (PPBL) is a rare, generally benign, lymphoproliferative hematological disease characterized by chronic, stable, persistent, polyclonal lymphocytosis of memory B-cell origin, the presence of binucleated lymphocytes in the peripheral blood, and a polyclonal increase in serum immunoglobulin M (IgM). Patients are most frequently asymptomatic or may present with mild splenomegaly. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare primary osteolysis disorder characterized by multiple small osteolytic areas and sclerosis in the phalanges of one or both hands associated with swelling and redness of the phalanges. Condition is benign, self-limited and may be associated with cold exposure. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome is a rare, acquired peripheral neuropathy disease characterized by rapidly progressive oropharyngeal (facial palsy, dysarthria) and cervicobrachial weakness, associated with upper limb weakness and hypo/areflexia, in the absence of ophthalmoplegia, ataxia, altered consciousness, and prominent lower limb weakness. The presence of monospecific IgG anti-GT1a antibodies is associated. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic dystrophy, dysmorphic facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, congenital disorder of glycosylation and glycogen storage disease characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity. Less common manifestations include malignant hyperthermia, rhabdomyolysis, and hypogonadotropic hypogonadism with delayed puberty. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, hereditary, immune deficiency with skin involvement characterised by early-onset cold urticaria after generalised exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare urogenital tumor characterized by stromal and epithelial components forming cysts lined by hyperplastic epithelium in a cellular or sarcomatoid stroma. The tumors may be clinically benign or malignant and tend to recur after transurethral resection. Metastatic spread is to lungs, bone, and liver. Patients may present with obstructive voiding symptoms, dysuria, hematuria, urinary retention, or a palpable abdominal mass. The prostate is palpably enlarged but feels soft and spongy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Piebaldism is a rare congenital pigmentation skin disorder characterized by the presence of hypopigmented and depigmented skin areas (leukoderma) on various parts of the body, preferentially on the forehead, chest, abdomen, upper arms, and lower extremities, that are associated with a white forelock (poliosis), and in some cases with hypopigmented and depigmented eyebrows and eyelashes. |
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 axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare primary glomerular disease characterized by the association of congenital nephrotic syndrome, early onset renal failure and ocular anomalies with microcoria and severe neurodevelopment deficits. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic primary lymphedema characterized by uniform, widespread lymphedema, often with systemic involvement such as intestinal and pulmonary lymphangiectasia, pleural and pericardial effusions, and chylothorax. There is a high incidence of non-immune hydrops fetalis, which may result in fetal demise or fully resolve after birth. Severe, recurrent facial cellulitis is observed in some patients. Presence of epicanthic folds or micrognathia has occasionally been reported, while intelligence is normal, and seizures are absent. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic skin disease characterised by infantile onset of diffuse alopecia, abnormal skin pigmentation (hypo- and hyperpigmented macules of the trunk and face and areas of reticular hypo- and hyperpigmentation of the extremities), palmoplantar keratoderma, and nail dystrophy. Patients develop recurrent spinocellular carcinomas later in life. Brittle teeth resulting in early loss of dentition have also been described. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare, commonly bilateral and symmetric retinal disease characterized by non-progressive or slowly progressive chorioretinal atrophy, peripapillary pigmentary changes and accumulation of bone-corpuscle pigmentation along the retinal veins and which is usually asymptomatic or can present with mild blurred vision. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An uncommon transitory hair shaft dysplasia characterized by segmental duplication of the hair shaft: a ramification generates two parallel branches which fuse to form a single shaft again. Each branch is covered by its own cuticle. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pili torti-developmental delay-neurological abnormalities syndrome is characterized by growth and developmental delay, mild to moderate neurologic abnormalities, and pili torti. It has been described in a brother and his sister born to consanguineous Puerto Rican parents. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pilocytic astrocytoma is a rare subtype of low-grade glioma of the central nervous system characterized by a well circumscribed, often cystic, brain tumor with a discrete mural nodule and long, hair-like projections that extend from the neoplastic astrocytes. Depending on the primary localization and the size of the tumor, patients can present with signs of raised intracranial pressure (headache, vomiting, papilledema), blurred vision, decreased visual acuity, ataxia and/or nystagmus, among others. It is most commonly located in the cerebellum, but occurrence in the hypothalamus, brain stem, optic chiasma, and hemispheres has also been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia, abnormally shaped teeth, scalp hypotrichosis and pili annulati), follicular hyperkeratosis on the trunk and limbs, and hyperopia. Intensified delineation, reticular hyperpigmentation of the nape and astigmatism have also been reported. 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 |
| Pineocytoma is the least aggressive form of pineal parenchymal tumours, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare pituitary deficiency characterized by herniation of the subarachnoid space into the sella turcica, resulting in flattening of the pituitary gland and endocrine dysfunction. Most common endocrine abnormalities are hyperprolactinemia and growth hormone deficit. Clinical symptoms are highly variable and include headaches, irregular menstruation, galactorrhea, obesity, and visual disturbances, among others. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pituitary dermoid and epidermoid cysts is a rare, acquired pituitary hormone deficiency characterised by the presence of rare, benign tumour in the sellar region. Clinical presentation is either acute or insidious, and is variable according to the cyst location, size and potential rupture. Most commonly patients present with headache, visual disturbances, and pituitary dysfunction. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterised by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare pulmonary disease characterized by primary or non bacteremic pneumonia most frequently arising in an intensive care setting, or bacteremic pneumonia, which is typically associated with neutropenia. Chronic lower respiratory tract infection with development of episodes of pneumonia is common in patients with cystic fibrosis. Acute infections are potentially life-threatening. Patients present with fever, chills, dyspnea, cyanosis, productive cough, as well as signs of severe systemic toxicity. Alveolar hemorrhage, necrosis, and, eventually, cavity formation, are commonly seen. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Poikiloderma with neutropenia is a rare, genetic hereditary poikiloderma disorder characterized by early-onset poikiloderma (which typically begins in the extremities, progresses centripetally and eventually involves the trunk, face and ears) associated with chronic neutropenia, recurrent infections, pachyonychia and palmoplantar keratoderma. Growth and/or developmental delay and hepato- and/or splenomegaly are additional reported features. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Systemic monochloroacetate poisoning is a rare, life-threatening intoxication with monochloroacetic acid (mainly through the skin, but also by inhalation or ingestion). It is characterized by vomiting, diarrhea and central nervous system (CNS)-excitability (disorientation, delirium, convulsions) as early signs of systemic poisoning, followed by CNS-depression, coma and cerebral edema. Additional signs include heart involvement (severe myocardial depression, shock, arrhythmias, nonspecific myocardial damage), severe metabolic acidosis, hypokalemia, hypocalcemia and progressive renal failure leading to anuria. Myoglobinemia and leukocytosis may occur. Manifestations may be delayed for 1-4 hours. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare haematologic disease characterised by high serum viscosity due to polyclonal expansion of immunoglobulins, most commonly in the context of Waldenström's macroglobulinaemia, as well as a variety of disorders of immune dysregulation. Patients present with signs and symptoms involving multiple organs, such as bleeding diathesis, mucosal bleeding, retinal haemorrhage, headache, stroke, pulmonary hypertension, and congestive heart failure. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic disease characterized by childhood onset of multiple endocrine manifestations in combination with central and peripheral nervous system abnormalities. Reported signs and symptoms include postnatal growth retardation, moderate intellectual disability, hypogonadotropic hypogonadism, insulin-dependent diabetes mellitus, central hypothyroidism, demyelinating sensorimotor polyneuropathy, and cerebellar and pyramidal signs. Progressive hearing loss and a hypoplastic pituitary gland have also been described. Brain imaging shows moderate white matter abnormalities. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Polyglucosan body myopathy type 1 is a rare, genetic, glycogen storage disorder characterized by polyglucosan accumulation in various tissues, manifesting with progressive proximal muscle weakness in the lower limbs and rapidly progressive, usually dilated, cardiomyopathy. Hepatic involvement and growth retardation may be associated. Early-onset immunodeficiency and autoinflammation, presenting with recurrent bacterial infections, have also been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare glycogen storage disease characterized by slowly progressive myopathy with storage of polyglucosan in muscle fibers. Age of onset ranges from childhood to late adulthood. Patients present proximal or proximodistal weakness predominantly of limb-girdle muscles. Variable features include exercise intolerance or myalgia. Serum creatine kinase is normal or mildly elevated. There is usually no overt cardiac involvement. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic neurological disorder characterized by a pregnancy complicated by polyhydramnios, severe intractable epilepsy presenting in infancy, severe hypotonia, decreased muscle mass, global developmental delay, craniofacial dysmorphism (long face, large forehead, peaked eyebrows, broad nasal bridge, hypertelorism, large mouth with thick lips), and macrocephaly due to megalencephaly and hydrocephalus in most patients. Additional features that have been reported include cardiac anomalies like atrial septal defects, diabetes insipidus, and nephrocalcinosis, among others. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, complex cerebral cortical malformation characterized by generalized or focal dysgyria (also named polymicrogyria-like cortical dysplasia) or alternatively by microlissencephaly with dysmorphic basal ganglia and dysgenesis of the corpus callosum. Clinical manifestations are variable and include microcephaly, seizures, hypotonia, developmental delay, severe psychomotor delay, ataxia, spastic diplegia or tetraplegia, and ocular abnormalities (strabismus, ptosis or optic atrophy). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| This rare neurologic disease is a slowly progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. |
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 recurrent ischemic strokes, often with a predilection for the pons, with typical onset in the fourth or fifth decade of life. Patients present progressive cognitive and motor impairment with pyramidal, bulbar, and cerebellar symptoms, among others. Brain imaging shows multiple lacunar infarcts, typically with involvement of the pons, as well as variable leukoencephalopathy of the cerebral hemispheres. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterised by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, central nervous system malformation syndrome characterized by bilateral congenital cataracts and severe hemorrhagic destruction of the brain parenchyma with associated massive cystic degeneration, enlarged ventricles and subependymal calcification. Patients typically present generalized spasticity, increased deep tendon reflexes and seizures. Hepatomegaly and renal anomalies have also been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare vascular liver disease characterised by the absence of cirrhosis with or without portal hypertension and histological lesions involving portal venules or sinusoids. Patients may present either with specific clinical signs of portal hypertension (including gastric oesophageal or ectopic varices, portal hypertensive bleeding or porto-systemic collaterals at imaging) or a histological lesion specific to porto sinusoidal vascular disease (including obliterative portal venopathy, nodular regenerative hyperplasmia or incomplete septal fibrosis or cirrhosis) or they may manifest clinical signs that are not specific to portal hypertension (such as ascites, platelet count <150.000/µl, increased spleen size ≥13 cm in the largest axis) together with a histological lesion including portal tract abnormalities, irregular distribution of the portal tracts and central veins, non-zonal sinusoidal dilation, mild perisinusoidal fibrosis. Possible associations with altered immunity, haematological diseases and prothrombotic conditions, infections, congenital or familial defects, or drug exposure are reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome is a rare, genetic developmental defect during embryogenesis disorder characterized primarily by congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Posterior amorphous corneal dystrophy (PACD) is a very rare form of stromal corneal dystrophy characterized by irregular amorphous sheet-like opacities in the posterior corneal stroma and in Descemet membrane and mildly impaired vision. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurologic disease characterized by impairment of higher visual processing skills and other posterior cortical functions without any evidence of ocular abnormalities, relatively intact memory and language in the early stages, and atrophy of posterior brain regions. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, non-syndromic, congenital, urogenital tract malformation affecting males and characterized by penoscrotal, scrotal or perineal displacement of the urethral meatus, and commonly associated with curvation of the penis. The scrotum might appear bifid in severe cases, and the boy can also have a micropenis. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Postorgasmic illness syndrome is a rare urogenital disease characterized by the appearance of flu-like symptoms (fever, extreme fatigue, myalgia, itchy burning eyes, nasal congestion/rhinorrhea), as well as mood changes, irritability and concentration, memory and attention difficulties, within a few minutes to a few hours after ejaculation. Symptoms disappear spontaneously 3-7 days after onset. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, primary orthostatic disorder characterized by dizziness, palpitations, fatigue, blurred vision and tachycardia following postural change from a supine to an upright position, in the absence of hypotension. A syncope with transient cognitive impairment and dyspnea may also occur. The norepinephrine transporter deficiency leads to abnormal uptake and high plasma concentrations of norepinephrine. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Thomas syndrome is characterized by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare group of multiple congenital anomalies/dysmorphic syndrome characterised by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogeneous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. |
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 intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophytosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare primary immunodeficiency characterized by a severe, potentially life-threatening course of influenza A infection with acute respiratory distress. Production of type I and III interferons in response to influenza virus is very low, while other immunological abnormalities are absent and no further unusual viral infections occur. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurologic disease with psychiatric involvement characterized by significantly lower-than-expected body weight due to voluntary reduction of food intake, intense fear of becoming overweight, and a distorted body image, in prepubescent children. Secondary manifestations include growth, developmental, and pubertal delay, decreased bone density, severe metabolic and endocrine dysfunction, cognitive impairment, depression, deterioration of academic or athletic performance, as well as difficulties in familial and peer relations, among others. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare odontogenic tumor characterized by aggressive clinical course and local destruction, occurring in mandible more often than in maxilla. The most common symptom is a rapidly progressing painful swelling, but it may present as a benign cystic lesion or as a large, rapidly growing mass with ulceration, bone resorption and teeth mobility, as well. The tumor may metastasize, most commonly to the cervical lymph nodes and the lungs. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare hepatic disease characterized by the overlap of primary biliary cholangitis and/or primary sclerosing cholangitis with autoimmune hepatitis, defined by the presence of at least two of the three recognized biochemical, serological, and histological criteria of each disease. The onset of the overlapping diseases can be simultaneous or sequential, with a variable interval of up to several years. Age of onset, gender predisposition, and clinical phenotype vary between each of the diseases, and the clinical presentation ranges from asymptomatic disease or unspecific symptoms such as fatigue, arthralgia, and pruritus, to established cirrhosis and decompensation, or also acute, fulminant hepatitis and liver failure. Association with extrahepatic autoimmune diseases is common. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Reynolds syndrome (RS) is an autoimmune disorder characterized by the association of primary biliary cirrhosis (PBC) with limited cutaneous systemic sclerosis (lcSSc). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Primary bone lymphoma is a rare lymphoid hemopathy defined as single or multiple tumors in the bone, not associated with infringement or violation of other extranodal malignant lymph nodes outside the area. It usually presents with bone pain, nerve compression, a palpable mass or fracture, while systemic features (fever, night sweats, fatigue, loss of appetite, weight loss) are not common. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare pituitary tumor characterized by the presence of a pituitary adenoma that has metastasized either within the central nervous system, or to distant sites. The vast majority of pituitary carcinomas are hormonally active, most frequently with ACTH or prolactin production. The most common clinical symptoms are diabetes insipidus, optic nerve dysfunction, anterior pituitary dysfunction, palsy of cranial nerves III, IV, or VI, and headaches, although patients may also be asymptomatic. The tumors behave aggressively, and prognosis is poor. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Carcinosarcoma of the corpus uteri is a rare, malignant, mixed epithelial and mesenchymal tumor of the uterine body composed of high-grade carcinomatous and sarcomatous elements. It may present with vaginal bleeding, abnormal vaginal discharge, abdominal pain and/or pelvic mass, with a polypoid tumor sometimes protruding through the cervical canal. Association with Tamoxifen therapy, long-term unopposed estrogen use and previous pelvic radiotherapy has been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
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