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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

4771 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease est un(e) (attribut) Disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
DNA instability syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
maladie héréditaire est un(e) (attribut) True Genetic disease Inferred relationship Some
Osteogenesis imperfecta est un(e) (attribut) True Genetic disease Inferred relationship Some
Microcystic renal disease (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication est un(e) (attribut) True Genetic disease Inferred relationship Some
Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Syndactyly, polydactyly, ear lobe syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) est un(e) (attribut) False Genetic disease Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Myopathy and diabetes mellitus (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Familial temporal lobe epilepsy (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Combined immunodeficiency with granulomatosis est un(e) (attribut) True Genetic disease Inferred relationship Some
Conductive deafness, malformed external ear syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Hirschsprung disease, ganglioneuroblastoma syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
syndrome d'anomalie cardiaque, hamartome de la langue, polysyndactylie est un(e) (attribut) True Genetic disease Inferred relationship Some
taurodontisme (trouble) est un(e) (attribut) True Genetic disease Inferred relationship Some
Lissencephaly with cerebellar hypoplasia type E est un(e) (attribut) False Genetic disease Inferred relationship Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia type A (disorder) est un(e) (attribut) False Genetic disease Inferred relationship Some
Genetic defect of hair shaft (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Solid neoplasm with neurotrophic receptor tyrosine kinase gene fusion est un(e) (attribut) True Genetic disease Inferred relationship Some
Genetic disorder of nail (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia est un(e) (attribut) True Genetic disease Inferred relationship Some
21q22.11q22.12 microdeletion syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Rabson-Mendenhall syndrome associé à (attribut) True Genetic disease Inferred relationship Some 2
Myopathy and diabetes mellitus (disorder) associé à (attribut) True Genetic disease Inferred relationship Some 3
Diabetes-deafness syndrome maternally transmitted associé à (attribut) True Genetic disease Inferred relationship Some 1
Diabetes mellitus associated with genetic syndrome associé à (attribut) True Genetic disease Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Due to False Genetic disease Inferred relationship Some 3
Wolfram-like syndrome (disorder) Due to True Genetic disease Inferred relationship Some 4
Hyperproinsulinaemia associé à (attribut) False Genetic disease Inferred relationship Some 1
Insulin-dependent diabetes mellitus secretory diarrhea syndrome associé à (attribut) False Genetic disease Inferred relationship Some 1
diabète sucré et diabète insipide avec atrophie optique et surdité associé à (attribut) True Genetic disease Inferred relationship Some 3
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie Due to False Genetic disease Inferred relationship Some 4
intolérance au glucose associée à un syndrome génétique associé à (attribut) True Genetic disease Inferred relationship Some 1
Hemolytic uremic syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
dysplasie en boomerang est un(e) (attribut) True Genetic disease Inferred relationship Some
Osteoglophonic dysplasia est un(e) (attribut) True Genetic disease Inferred relationship Some
Winchester syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital wooly hair (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Williams syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
syndrome de Maffucci (trouble) est un(e) (attribut) True Genetic disease Inferred relationship Some
Klippel-Feil sequence est un(e) (attribut) True Genetic disease Inferred relationship Some
Angelman syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Prader-Willi syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Hallermann-Streiff syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Focal facial dermal dysplasia (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Trinucleotide repeat disorder (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Woodhouse Sakati syndrome associé à (attribut) True Genetic disease Inferred relationship Some 4
Blau syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Generalized glucocorticoid resistance syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Male infertility of genetic origin est un(e) (attribut) True Genetic disease Inferred relationship Some
Cogan-Reese syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Genetic lipodystrophy (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Familial hematuria (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Isolated familial renal hypomagnesaemia est un(e) (attribut) True Genetic disease Inferred relationship Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness associé à (attribut) True Genetic disease Inferred relationship Some 7
myoclonie photo-induite, diabète sucré, surdité, néphropathie et dysfonctionnement cérébral associé à (attribut) True Genetic disease Inferred relationship Some 7
Amyotrophic lateral sclerosis, parkinsonism, dementia complex est un(e) (attribut) True Genetic disease Inferred relationship Some
Barber-Say syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Postlingual non-syndromic genetic deafness est un(e) (attribut) True Genetic disease Inferred relationship Some
Prelingual non-syndromic genetic deafness (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Generalised pustular psoriasis est un(e) (attribut) True Genetic disease Inferred relationship Some
syndrome cérébrocostomandibulaire (trouble) est un(e) (attribut) True Genetic disease Inferred relationship Some
Familial multiple lipomata (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Short rib dysplasia est un(e) (attribut) True Genetic disease Inferred relationship Some
Thin ribs, tubular bones, dysmorphism syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Humeroradioulnar synostosis est un(e) (attribut) True Genetic disease Inferred relationship Some
Familial lambdoid synostosis est un(e) (attribut) False Genetic disease Inferred relationship Some
Capra DeMarco syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Solitary median maxillary central incisor syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Acrocephalosyndactyly est un(e) (attribut) True Genetic disease Inferred relationship Some
Cloverleaf skull syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Familial isolated clinodactyly of finger (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
dystrophie musculaire d'Emery-Dreifuss est un(e) (attribut) False Genetic disease Inferred relationship Some
Primary tethered cord syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Adenocarcinoma of pancreas with neuregulin 1 gene fusion (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Non-small cell lung carcinoma with NRG1 fusion est un(e) (attribut) True Genetic disease Inferred relationship Some
Muscular dystrophy est un(e) (attribut) True Genetic disease Inferred relationship Some
Malignant tumor of esophagus with NRG1 fusion est un(e) (attribut) True Genetic disease Inferred relationship Some
Hadziselimovic syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Female infertility due to genetic disease (disorder) Due to True Genetic disease Inferred relationship Some 3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Cole-Carpenter dysplasia (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Progressive supranuclear palsy (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Chronic diarrhea with villous atrophy syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Oro-facial digital syndrome type 1 (disorder) est un(e) (attribut) False Genetic disease Inferred relationship Some
Non syndromic camptodactyly of fingers (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Camptodactyly syndrome Guadalajara type 3 (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Maturity-onset diabetes of the young (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Kosaki overgrowth syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital generalized hypercontractile muscle stiffness syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some

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