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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
Congenital generalized hypercontractile muscle stiffness syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Intermediate epidermolysis bullosa simplex with cardiomyopathy (disorder) Due to True Genetic disease Inferred relationship Some 3
Oral-facial-digital syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
dysplasie olfactogénitale est un(e) (attribut) True Genetic disease Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract est un(e) (attribut) True Genetic disease Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Tubulinopathy-associated dysgyria (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Clear cell sarcoma of kidney est un(e) (attribut) True Genetic disease Inferred relationship Some
atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré associé à (attribut) True Genetic disease Inferred relationship Some 5
Hallermann Streiff like syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Nemaline myopathy est un(e) (attribut) True Genetic disease Inferred relationship Some
Multiple paraganglioma associated with polycythaemia est un(e) (attribut) True Genetic disease Inferred relationship Some
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Hyaline fibromatosis syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome associé à (attribut) True Genetic disease Inferred relationship Some 3
Proximal myopathy with focal depletion of mitochondria est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital myopathy with fibre type disproportion est un(e) (attribut) True Genetic disease Inferred relationship Some
Amyotrophic lateral sclerosis type 6 est un(e) (attribut) True Genetic disease Inferred relationship Some
Amyotrophic lateral sclerosis type 7 (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Fryns Smeets Thiry syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
SATB2-associated syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies est un(e) (attribut) True Genetic disease Inferred relationship Some
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Mandibulofacial dysostosis with alopecia est un(e) (attribut) True Genetic disease Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital fibrosis syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Pancreatic agenesis, holoprosencephaly syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis est un(e) (attribut) True Genetic disease Inferred relationship Some
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital primary lymphedema of Gordon (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
GJC2-related late-onset primary lymphedema est un(e) (attribut) True Genetic disease Inferred relationship Some
3-methylglutaconic aciduria type 8 est un(e) (attribut) True Genetic disease Inferred relationship Some
Congenital secretory diarrhea, sodium type est un(e) (attribut) True Genetic disease Inferred relationship Some
17q24.2 microdeletion syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
9q21.13 microdeletion syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
19p13.3 microduplication syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
20q11.2 microdeletion syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Prader-Willi-like syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Timothy syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Femur fibula ulna complex est un(e) (attribut) True Genetic disease Inferred relationship Some
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) True Genetic disease Inferred relationship Some
Non-syndromic metopic craniosynostosis (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Familial isolated retinal arterial tortuosity (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
MYH9 related disease est un(e) (attribut) True Genetic disease Inferred relationship Some
Monogenic autoinflammatory syndrome (disorder) est un(e) (attribut) True Genetic disease Inferred relationship Some
Ovotesticular disorder of sex development est un(e) (attribut) True Genetic disease Inferred relationship Some

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