| Members |
languageDialectCode |
typeId |
value |
| This syndrome is characterized by the association of acanthosis nigricans, insulin resistance, severe muscle cramps and acral hypertrophy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Supernumerary nostril is an extremely rare congenital malformation characterized by the presence of one or more accessory nostrils, with or without accessory cartilage, located medially, above, below or laterally to the other nostrils. Unlike in polyrhinia there is no duplication of the nasal septum/cavity. Supernumerary nostril is often associated with other congenital malformations usually of face. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of potassium-aggravated myotonia (PAM) which shows dramatic improvement with the use of acetazolamide (ACZ). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. |
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 a variable combination of dental, cutaneous, ocular, and bone abnormalities, including pyramidal and fused molar roots, taurodontism, an abnormal upper lip without a cupid's bow and thickened and wide philtrum, juvenile glaucoma, syndactyly, and clinodactyly. There have been no further descriptions in the literature since 1973. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare subtype of renal cell carcinoma, occurring in the context of end-stage kidney disease and acquired cystic kidney disease, characterized by a usually well circumscribed, solid, multifocal, bilateral tumor with inter- or intracellular microlumen formation (leading to cribiform architecture). Tumors are often diagnosed incidentally in early stages, although complications caused by renal cysts (dull flank or abdominal pain, fever) or renal parenchymal bleeding may mask the underlying neoplastic process. Most have an indolent behavior. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricemia. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A life-threatening, rapidly progressive thrombotic disorder affecting mainly neonates and children that is characterized by purpuric skin lesions and disseminated intravascular coagulation. It may progress rapidly to multi-organ failure caused by thrombotic occlusion of small and medium-sized blood vessels. There are two forms of the disorder that are classified according to triggering mechanisms: acute infectious (the most common form), and idiopathic purpura fulminans. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of localized dystrophic epidermolysis bullosa characterized by trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A variant of self-healing collodion baby (SHCB) characterized by the presence at birth of a collodion membrane only at the extremities. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual disability. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic disorder characterised by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. 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 |
| A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare acrofacial dysostosis due to the presence of manifestations not usually seen in Nager syndrome (NS) such as microcephaly, blepharophimosis, microtia, a peculiar beaked nose, cleft lip and palate, symmetrical involvement of the thumbs and great toes and developmental delay. It has since been suggested that these features can also be a part of the NS phenotype. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height <120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4-related disorders including Okihiro syndrome and Holt-Oram syndrome. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare epilepsy syndrome characterized by progressive myoclonus epilepsy in association with primary glomerular disease. Patients present with neurologic symptoms (including tremor, action myoclonus, tonic-clonic seizures, later ataxia and dysarthria) that may precede, occur simultaneously or be followed by renal manifestations including proteinuria that progresses to nephrotic syndrome and end-stage renal disease. In some patients, sensorimotor peripheral neuropathy, sensorineural hearing loss and dilated cardiomyopathy are associated symptoms. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Bilateral acute depigmentation of the iris (BADI) is characterized by acute onset of bilateral iris depigmentation, pigment dispersion in the anterior chamber, and heavy pigment deposition in the anterior chamber angle. Patients typically present with acute and usually severe photophobia, blurred vision, red eye, and ocular discomfort or pain with a usually self-limiting clinical course. Cases often occur after a flu-like illness, upper respiratory tract infection, and after the use of oral moxifloxacin. When associated with iris epithelial depigmentation, iris transillumination defects and atonic/mydriatic pupil, the condition is referred to as bilateral acute iris transillumination (BAIT) which has an increased risk of severe intractable rise in intraocular pressure. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare childhood-onset epilepsy syndrome associated with infection and characterized by a biphasic clinical course. The initial symptom is a prolonged febrile seizure on day 1 (the first phase). Afterwards, patients have variable levels of consciousness from normal to coma. Irrespective of the consciousness levels, magnetic resonance imaging (MRI) during the first 2 days shows no abnormality. During the second phase (usually days 4 - 6), patients show a cluster of seizures and deterioration of consciousness. Diffusion-weighted images (DWI) on MRI reveal the brain lesions with reduced diffusion predominantly in the subcortical white matter. After the second acute phase, consciousness levels improve with the emerging focal neurological signs. Neurological outcomes of AESD vary from normal to mild or severe sequelae including cerebral atrophy, mental retardation, paralysis and epilepsy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, severe complication occurring in the third trimester of pregnancy or in early postpartum period bearing a risk for perinatal and maternal mortality and characterized by jaundice, rise of hepatic injuries and evolving to acute liver failure and encephalopathy. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare hypersensitivity reaction with characteristics of the rapid development of numerous, nonfollicular, sterile, pinhead-sized pustules on an erythematous base, predominantly occurring on the trunk, intertriginous and flexural areas, with rare, mostly oral, mucosal involvement. Fever, peripheral blood leukocytosis, and mild eosinophilia are accompanying features. Systemic involvement, with hepatic, renal or pulmonary dysfunction, occasionally occurs. Onset usually occurs 1-12 days after administration of the causal medication and is most frequently associated with beta‐lactam antibiotics, macrolides (including pristinamycin and clindamycin), diltiazem, terbinafine, (hydroxy‐)chloroquine but many other medications have also been implicated. Histology reveals spongiform, subcorneal and/or intraepidermal, pustules but this pattern is not specific (same in pustular psoriasis). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial respiratory chain deficiency due to TRMU deficiency leading to mitochondrial tRNA synthesis defect and characterized clinically by transient, but life-threatening acute liver failure episodes. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare autosomal recessive axonal hereditary motor and sensory neuropathy characterized by infantile onset of recurrent episodes of acute liver failure (resulting in chronic liver fibrosis and hepatosplenomegaly), delayed motor development, cerebellar dysfunction presenting as gait disturbances and intention tremor, neurogenic stuttering, and motor and sensory neuropathy with muscle weakness especially in the lower legs, and numbness. Mild intellectual disability was reported in some patients. MRI of the brain shows non-progressive atrophy of the cerebellar vermis and thinning of the optic nerve. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurologic disease characterized by lethargy, hypotonia, poor feeding, opisthotonus, and a typical high-pitched cry due to bilirubin accumulation in the globus pallidus, sub-thalamic nuclei, and other brain regions, resulting from severe neonatal unconjugated hyperbilirubinemia. Onset of symptoms is typically within the first three to five days of life. Additional features include fever, apnea, seizures, and coma. Respiratory failure or refractory seizures may lead to a fatal outcome. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, acquired retinal disorder characterized by transient or permanent visual impairment accompanied by the presence of reddish-brown, wedge-shaped lesions in the macula, the apices of which tend to point towards the fovea. The lesions usually appear in a petaloid or tear-drop configuration. Patients tend to be young, Caucasian, and female. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare pure motor axonal form of Guillain-Barré syndrome (GBS). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare motor-sensory, axonal form of Guillain-Barré syndrome (GBS). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A subgroup of therapy-related myeloid neoplasms (t-MN), associated with a treatment of an unrelated neoplastic or autoimmune disease with cytotoxic agents, like cyclophosphamid, platins, melphalan and others. The neoplastic cells typically harbour unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. It usually presents with multilineage dysplasia and cytopenias 5-10 years after exposure, with symptoms related to the degree of bone marrow failure and the corresponding cytopenia (fatigue, bleeding and bruising, recurrent infections, bone pain). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with radiation. The neoplastic cells typically harbor unbalanced aberrations of chromosomes 5 and 7 (monosomy 5/del(5q) and monosomy 7/del(7q)) or a complex karyotype. Patients frequently present with multilineage dysplasia and cytopenias 5-10 years after exposure. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A subgroup of therapy-related myeloid neoplasms (t-MN), associated with treatment of an unrelated neoplastic disease with cytotoxic agents, like etoposide, doxorubicin, daunorubicin and others. The neoplastic cells often show rearrangements involving the mixed lineage leukaemia gene at 11q23. This subgroup of t-MN is typically associated with overt leukaemia, without preceding myelodysplastic syndrome, developing 2-3 years after exposure, presenting with non-specific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare tumor arising from hematopoietic and lymphoid tissues characterized by abnormal proliferation and differentiation of a clonal population of myeloid stem cells carrying unspecific 11q23 abnormalities. Clinical manifestations result from accumulation of malignant myeloid cells within the bone marrow, peripheral blood and other organs, and include leukocytosis, anemia, thrombocytopenia, fatigue, anorexia and weight loss. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare acute myeloid leukemia (AML) with recurrent genetic anomaly characterized by the presence of bone marrow and peripheral blood myeloblasts with features ranging from those of minimal differentiation to granulocytic maturation, demonstrating t(9;22)(q34.1;q11.2) or molecular genetic evidence of BCR-ABL1 fusion. Evidence of chronic myeloid leukemia (CML) is absent. Patients most commonly present with leukocytosis with blast predominance and variable anemia and thrombocytopenia. Splenomegaly is less frequent and peripheral blood basophilia lower than in patients with myeloid blast transformation of CML. The disease occurs primarily in adults, and response to traditional AML therapy or tyrosine kinase inhibitor therapy alone is typically poor. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A subtype of acute myeloid leukaemia with recurrent genetic abnormalities, characterised by clonal proliferation of myeloid blasts harbouring somatic mutations of the CEBPA gene in the bone marrow, blood and, rarely, other tissues. It can present with anaemia, thrombocytopenia, and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A subtype of acute myeloid leukemia with recurrent genetic abnormalities characterized by leukocytosis, thrombocytosis and nonspecific symptoms related to ineffective hematopoiesis (fatigue, bleeding and bruising, recurrent infections, bone pain), with frequent extramedullary involvement typically presenting as gingival hyperplasia and lymphadenopathy. The disease is characterized by clonal proliferation of myeloid blasts harboring mutations of the NPM1 gene in the bone marrow, blood and other tissues. It is associated with multilineage dysplasia, involving the myeloid, monocytic, erythroid, and megakaryocytic cell lineages. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare subtype of acute myeloid leukaemia with recurrent genetic abnormalities characterised by clonal proliferation of poorly differentiated myeloid blasts in the bone marrow, blood, or other tissues in patients who present the t(6;9)(p23;q34) translocation. Frequently associated with multilineage bone marrow dysplasia, it usually presents with anaemia, thrombocytopenia (often pancytopenia), and other nonspecific symptoms related to ineffective haematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (gingivitis, splenomegaly). Basophilia, as well as poor response to chemotherapy, has been reported. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A distinct form of acute myeloid leukemia (AML) in which this chromosomal anomaly is found de novo or in therapy-related AML cases, and is characterized by frequent extramedullary involvement (mainly hepatomegaly, splenomegaly, lymphadenopathies, cutaneous infiltration, but also gum, bone, central nervous system, testicles involvement), severe coagulation disorder (disseminated intravascular coagulopathy or primary fibrinolysis) and poor prognosis. Morphologically, a blast population with a myelomonocytic stage of differentiation is observed. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurologic disease characterized by a rapid onset of seizures, an altered state of consciousness, neurologic decline, and variable degrees of hepatic dysfunction following a respiratory or gastrointestinal infection (e.g. mycoplasma, influenza virus) in a previously healthy child. Brain MRI of patients reveals bilateral, multiple, symmetrical lesions predominantly observed in thalami and brainstem, but also in periventricular white matter and cerebellum in some cases. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare vascular condition characterized by the sudden blockage of an artery supplying blood to the limbs by a blood clot, causing acute limb ischemia. The clinical presentation is variable and depends on the time course of vessel occlusion, the presence of an underlying vascular disease, and the recruitment of collateral circulation. Symptoms can develop over a period of hours to days and typically include limb pain, pallor, absent pulse, poikilothermia, paresthesia, and limb paralysis. The condition can quickly progress to infarction and loss of the limb. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare unclassified acute myeloid leukemia characterized by an acute panmyeloid proliferation with blasts constituting more than 20% of cells in the bone marrow or peripheral blood, accompanied by fibrosis of the bone marrow. Patients typically present with acute onset of severe constitutional symptoms, bone pain, and pancytopenia. Splenomegaly is minimal or absent. The disease is rapidly progressive with poor therapy response. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare radiation-induced disorder resulting from whole body exposure to large doses of penetrating radiation (>0.7 Gray) within a very short period of time (usually minutes) and characterized by bone marrow syndrome with pancytopenia (mild symptoms of which may occur already at 0.3 Gray), gastrointestinal syndrome resulting in mostly fatal infection, dehydration, and electrolyte imbalance (occurring at doses >10 Gray), and cardiovascular/central nervous system syndrome with watery diarrhea, convulsions, coma, and death within three days of exposure (occurring at doses >50 Gray). The syndrome develops in four clinical stages (prodromal/latent/manifest illness/recovery or death) of variable duration. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare cardiac condition characterized by acute severe right ventricular failure with subsequent hemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare variant of Guillain-Barré syndrome characterized by acute onset monophasic sensory neuropathy with diminished or absent tendon reflexes, loss of proprioception, positive Romberg sign and nerve conduction features of demyelination. It presents several weeks after acute infection with paresthesias, ataxia and neuropathic pain. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare potentially lethal intoxication with characteristics of life-threatening arrhythmias (sinus tachycardias, premature ventricular contractions, ventricular arrhythmias), anticholinergic toxidrome (mydriasis, dry mucous membrane, tachycardia, hypertension), central nervous system toxicity (lethargy, coma, myoclonic jerks), refractory hypotension and sudden death. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare acute leukemia of ambiguous lineage characterized by clonal proliferation of primitive hematopoietic cells, primarily in the bone marrow and blood, lacking lineage-specific markers and detectable genotypic alterations. The patients present with leukocytosis, anemia, variable platelet count and a variety of nonspecific symptoms related to ineffective hematopoesis (fatigue, bleeding and bruising, recurrent infections, bone pain) and/or extramedullary site involvement (lymphadenopathy, splenomegaly, hepatomegaly). |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A very rare tumor of the intestine, originating from the epithelium of the anal canal (including the mucosal surface, anal glands, and lining of fistulous tracts), macroscopically appearing as a nodular, often ulcerated, invasive mass located in the anal canal. Patients often present with rectal bleeding, as well as difficulty and pain during defecation. Inguinal lymphadenopathy, if present, usually indicates metastatic spread. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare epithelial carcinoma, arising either in the gallbladder itself or from the epithelium lining the extrahepatic biliary tree, cystic duct and/or peribiliary gland, characterized by nonspecific symptoms, such as abdominal pain, jaundice and vomiting and sometimes mimicking benign biliary diseases. Chronic biliary epithelial inflammation (e.g. primary sclerosing cholangitis, cholelithiasis, choledocholithiasis, liver fluke infestation) is a major risk factor. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare penile epithelial neoplasm, histologically composed of nests of epithelial cells floating in lakes of extracellular, PAS-positive mucin, clinically characterized by a nonhealing ulcer or soft mass in the preputium or glans area, with itching and burning often preceding appearance of the lesion. Lymphadenopathy may indicate dissemination. Mucinous metaplasia of the penis may be a risk factor. |
en |
Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare viral disease characterized by invasive and/or disseminated adenovirus infection in immunocompromised patients, either acquired de novo or arising from reactivation of persistent latent infection. The clinical picture comprises a wide range of manifestations including pneumonia, colitis, hepatitis, hemorrhagic cystitis, tubulointerstitial nephritis, encephalitis, and disseminated disease, among others. Severity varies with age and immune status, and life-threatening courses may occur. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare autosomal recessive distal myopathy characterized by slowly progressive diffuse muscle weakness in childhood, followed by predominantly distal muscle weakness in adolescence, and quadriceps muscle weakness in the fourth decade. Facial muscle weakness is commonly reported. Muscle biopsy shows fiber size variation, increased internal nuclei, fiber splitting, rimmed vacuoles, and focal endomysial fibrosis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare genetic endocrine disease characterised by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, renal disease characterized by the association of familial adult medullary cystic disease with spastic quadriparesis. There have been no further descriptions in the literature since 1990. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder that manifest in adults and generally present with a variety of non-specific manifestations (depending on tumor site and infiltration) such as weight loss, exhaustion, hemorrhagic pericardial effusion, heart failure, arrhythmias, and embolisms, or that can also be asymptomatic. In adults 75% of heart tumors are benign, with myxoma being the most common benign tumor (accounting for 50-70% of all primary heart tumors) and rhabdomyosarcoma comprising 75% of malignant heart tumors. Other malignant tumors of the heart include fibrosarcoma and leiomyosarcoma. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare acquired aplastic anaemia characterised by a severe normocytic anaemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoiesis and megakaryopoiesis. It presents with signs of severe anaemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnoea) in the absence of haemorrhagic symptoms. |
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Inserm Orphanet |
| A very rare non-syndromic autosomal recessive pyridoxine-refractory sideroblastic anemia due to a splice defect of glutaredoxin-5 (GLRX5) described in a single patient with adult onset microcytic hypochromic anemia with liver iron overload and type 2 diabetes. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare mitochondrial disease characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, manifestations of spinocerebellar ataxia (e.g. impaired gait, dysarthria) and mild motor peripheral neuropathy. Respiratory insufficiency has been reported in some cases. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare idiopathic inflammatory myopathy (IIM) with a heterogeneous phenotype characterized by myositis with at least one clinical and/or autoantibody overlap feature. Possible clinical overlap features include polyarthritis, Raynaud's phenomenon, sclerodactyly, scleroderma (proximal to metacarpophalangeal joints), lung interstitial pneumonia, and/or clinical signs of systemic lupus erythematosus (SLE). |
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Inserm Orphanet |
| A rare genetic neurological disorder characterised by congenital or early-onset sensorineural deafness and adult-onset progressive leucoencephalopathy. Progressive cognitive impairment and behavioural abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophrys, large eyes) and optic atrophy have been observed. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Internal carotid artery (ICA) agenesis (uni or bilateral) is a developmental defect that may be asymptomatic or lead to cerebrovascular lesions. It is a rare malformation, with only around a hundred cases reported in the literature. When symptoms are present, they are caused by cerebrovascular insufficiency, compression of the brain by vessels that dilate to compensate for the absence of the ICA, or the presence of an aneurysm. Associated intracranial aneurysms occur in 25 to 35% of patients and are often responsible for intracranial hemorrhage, which may present as the initial symptom. The absence of the ICA is the result of either agenesis or aplasia. The term agenesis is used when both the ICA and its bony canal are absent, whereas there is some evidence of carotid canals in cases of aplasia. The absence of the ICA can be detected by angiography or by computerized tomography. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare urogenital tract malformation characterized by the complete absence of the scrotal rugae in the perineum between the penis and anus, with bilateral testes being present in a cryptorchid or ectopic position. Hemiscrotal agenesis refers to the unilateral absence of scrotal skin with an intact midline raphe and ipsilateral cryptorchidism. Both malformations may be isolated findings, or occur in association with other anomalies. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, aggressive form of advanced systemic mastocytosis (advSM) characterized by massive infiltration of mast cells (MC) in different tissues and presence of extracutaneous organ dysfunction, but without evidence of mast cell leukemia or another hematologic neoplasm. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An X-linked recessive retinal disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, progressive axial myopia, defective dark adaptation and protanopia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| Stimmler syndrome is characterized by the association of microcephaly, low birth weight and severe intellectual deficit with dwarfism, small teeth and diabetes mellitus. Two cases have been described. Biochemical tests reveal the presence of high levels of alanine in the urine and elevated alanine, pyruvate and lactate levels in the blood. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic gastroenterological disease characterized by severe, refractory intestinal inflammation with mucosal erosions and ulcerations potentially involving the small and large intestine. Epithelioid granulomas are typically absent. Patients present with severe diarrhea, abdominal pain, vomiting, rectal bleeding, and weight loss. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies/dysmorphic syndrome characterised by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global developmental delay, intellectual disability, microcephaly, hydrocephaly, heart defects, renal problems, severe muscle hypotonia causing incapacity to stand without a support, epilepsy, syndactyly and variable dysmorphic facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia). |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare, genetic, neuro-endocrino-cutaneous disorder characterised by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynaecomastia, microcephaly and kyphoscoliosis. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
| A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant. |
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Attributed to a particular organization or group that contributes content to SNOMED CT. |
Inserm Orphanet |
FHIR