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782964007: Genetic disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3756960017 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756960017 Genetic disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3756961018 Genetic disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5590981000241110 maladie génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5590981000241110 maladie génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5158 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital generalized hypercontractile muscle stiffness syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Intermediate epidermolysis bullosa simplex with cardiomyopathy Due to True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 3
Oral-facial-digital syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with anosmia Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Tubulinopathy-associated dysgyria (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Clear cell sarcoma of kidney Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 5
Hallermann Streiff like syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Nemaline myopathy (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Multiple paraganglioma associated with polycythemia Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Hyaline fibromatosis syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic neuromuscular disease characterized by late onset of mild, progressive, proximal muscle weakness, severe myalgias during and after exercise, and susceptibility to rhabdomyolysis. Intellectual disability is mild or absent. There are no abnormalities of the skin. Muscle biopsy shows focal depletion of mitochondria especially at the center of muscle fibers, surrounded by enlarged mitochondria at the periphery. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital myopathy with fibre type disproportion Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Amyotrophic lateral sclerosis type 6 Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A neurodegenerative disease with characteristics of progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord. Cytogenetic location is 20p13. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Fryns Smeets Thiry syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterised by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
SATB2-associated syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (disorder) Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare mandibulofacial dysostosis characterized by the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism, and eyelid anomalies, among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction, and conductive hearing loss. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fibrosis syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (CHARGE) association (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Pancreatic agenesis, holoprosencephaly syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
EPHB4-related lymphatic-related hydrops fetalis Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Piezo type mechanosensitive ion channel component 1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital primary lymphedema of Gordon (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Gap junction protein gamma 2-related late-onset primary lymphedema (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type 8 Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital secretory diarrhea, sodium type Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
17q24.2 microdeletion syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
9q21.13 microdeletion syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
19p13.3 microduplication syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
20q11.2 microdeletion syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi-like syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Timothy syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Femur fibula ulna complex (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia, microtia, fetal akinesia syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Non-syndromic metopic craniosynostosis (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Monogenic autoinflammatory syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Ovotesticular disorder of sex development Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of slowly progressive night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facial features (periorbital anomalies, malar flatness, retrognathia). Additional manifestations include myopia and extinguished electroretinograms. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare disease with malignant hyperthermia characterized by exercise-induced life-threatening hyperthermia with a body temperature over 40°C and signs of encephalopathy ranging from confusion to convulsions or coma. Incidence increases with rising ambient temperature and relative humidity. Manifestations may include rhabdomyolysis (presenting with myalgia, muscle weakness, and myoglobinuria), tachycardia, and in severe cases multiorgan failure. Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Aprosencephaly cerebellar dysgenesis Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability which in symptomatic, female carriers is characterized by a highly variable phenotype including facial dysmorphisms (prominent forehead, hypertelorism, down-slanting palpebral fissures, epicanthic folds, thick lips with everted lower vermilion, thick nasal alae, and septum), short hands with tapering fingers, short stature and skeletal findings (progressive kyphoscoliosis). Intellectual disability is mild to moderate, but intellect can also be normal. A high rate of psychiatric disorders has also been reported. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Lamb Shaffer syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Genetic disorder of skin pigmentation (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis hystrix (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Weismann Netter syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Menke Hennekam syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Dementia due to genetic disease (disorder) Due to True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 3
Genetic non-syndromic obesity Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Deafness is the most frequent form of sensorial deficit. In the vast majority of cases, the deafness is termed nonsyndromic or isolated and the hearing loss is the only clinical anomaly reported. In developed counties, 60-80% of cases of early-onset hearing loss are of genetic origin. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Large congenital pigmented melanocytic nevus of skin (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Adult vitelliform macular dystrophy Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Mesomelic dysplasia Savarirayan type (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Neurofibromatosis type 2 Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Lecithin cholesterol acyltransferase deficiency Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Malignant hyperthermia (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
GNAO1-related developmental delay, seizures, movement disorder spectrum Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Mixed gonadal dysgenesis Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse capillary malformation with overgrowth Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
An autoinflammatory syndrome that is not associated with a single, identified genetic mutation. Genetic categorisation of the syndrome may be complicated due to the involvement of multiple genes. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperinsulinemic hypoglycaemia Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)

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