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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
DNA instability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary disease Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Osteogenesis imperfecta Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Microcystic renal disease Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Mixed sclerosing bone dystrophy with extra-skeletal manifestation Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly, polydactyly, ear lobe syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Myopathy and diabetes mellitus (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial temporal lobe epilepsy (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-severe combined immunodeficiency disease with characteristics of immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs and various autoimmune manifestations (including cytopenia, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Conductive hearing loss, malformation of external ear syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Hirschsprung disease, ganglioneuroblastoma syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Heart defect, tongue hamartoma, polysyndactyly syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Taurodontism Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type E (disorder) Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly with cerebellar hypoplasia type A Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Genetic defect of hair shaft (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Genetic disorder of nail (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
21q22.11q22.12 microdeletion syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Pineal hyperplasia AND diabetes mellitus syndrome (disorder) Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 2
Myopathy and diabetes mellitus (disorder) Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 3
Maternally inherited diabetes and deafness (disorder) Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Diabetes mellitus associated with genetic syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Due to False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 3
Wolfram-like syndrome Due to True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 4
Hyperproinsulinaemia Associated with False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome Associated with False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Wolfram syndrome (disorder) Associated with False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare, severe, circulatory system disease characterised by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Due to False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 4
Impaired glucose tolerance associated with genetic syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 1
Haemolytic uraemic syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Boomerang dysplasia Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Osteoglophonic dysplasia Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Winchester syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital wooly hair (disorder) Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Williams syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Maffucci syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Klippel-Feil sequence (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Angelman syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Prader-Willi syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Hallermann-Streiff syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Focal facial dermal dysplasia (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Trinucleotide repeat disorder (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Woodhouse Sakati syndrome Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare systemic inflammatory disease with characteristics of early onset granulomatous arthritis, uveitis and skin rash. Blau syndrome (BS) now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. Skin rash is usually the first manifestation, joint manifestations usually begin before the age of 10 with painless cyst-like swellings on the back of feet and wrists. Camptodactyly due to hypertrophic tenosynovitis is often described as the disease progresses. The spectrum of clinical manifestations includes fever, malignant systemic and pulmonary hypertension, granulomatous large-vessel vasculitis and granulomatous inflammation of the liver, kidneys and lung. BS is due to an inherited or de novo mutation in the NOD2 gene (16q12), responsible for alterations in the innate immune response, inflammation and cell death. BS is an autosomal dominant disorder in the familial form. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Generalized glucocorticoid resistance syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Male infertility of genetic origin (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cogan-Reese syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Genetic lipodystrophy (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial hematuria Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Isolated familial renal hypomagnesaemia Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness (disorder) Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 7
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Associated with True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 7
Amyotrophic lateral sclerosis, parkinsonism, dementia complex (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Barber-Say syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Postlingual non-syndromic genetic deafness Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Prelingual non-syndromic genetic deafness (disorder) Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Generalised pustular psoriasis Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cerebro-costo-mandibular syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial multiple lipomata (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Short rib dysplasia (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Thin ribs, tubular bones, dysmorphism syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
synostose lambdoïde familiale Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Solitary median maxillary central incisor syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cloverleaf skull syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Familial isolated clinodactyly of finger Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Emery-Dreifuss muscular dystrophy Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Primary tethered cord syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Adenocarcinoma of pancreas with neuregulin 1 gene fusion (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Non-small cell lung carcinoma with NRG1 fusion Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Muscular dystrophy Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Malignant tumor of esophagus with NRG1 fusion Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Female infertility due to genetic disease (disorder) Due to True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept) 3
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Cole-Carpenter dysplasia (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
A rare late-onset neurodegenerative disease with characteristics of supranuclear gaze palsy, postural instability, progressive rigidity, and mild dementia. Five clinical variants have been described with clinicopathological correlations, with Richardson's syndrome the most common clinical variant. The disease has neuropathological manifestations of neuronal loss, gliosis with astrocytic plaques and accumulation of tau-immunoreactive neurofibrillary tangles in specific brain areas. The differences in the rate and areas of accumulation of phosphorylated tau protein correlate with the five clinical variants. The disease is a 4R tauopathy composed of a preponderance of four-repeat (exon 10 positive) tau isoforms and a characteristic biochemical profile (doublet tau 64 and tau 69). The MAPT H1-clade specific sub-haplotype, H1c, is a risk factor for this disease. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Chronic diarrhea with villous atrophy syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 1 Is a False Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Non syndromic camptodactyly of fingers (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Camptodactyly syndrome, Guadalajara type 3 is a rare, genetic bone development disorder characterized by hand camptodactyly associated with facial dysmorphism (flat face, hypertelorism, telecanthus, symblepharon, simplified ears, retrognathia) and neck anomalies (short neck with striking pterygium, muscle sclerosis). Additional features include spinal defects (e.g. cervical and dorso-lumbar spina bifida occulta), congenital shortness of the sternocleidomastoid muscle, flexed wrists and thin hands and feet. Brain structural anomalies, multiple nevi, micropenis and mild intellectual disability are also observed. Imaging reveals increased bone trabeculae, cortical thickening of long bones and delayed bone age. Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Maturity-onset diabetes of the young (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Kosaki overgrowth syndrome Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)
Congenital generalized hypercontractile muscle stiffness syndrome (disorder) Is a True Genetic disease Inferred relationship Existential restriction modifier (core metadata concept)

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