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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
5590981000241110 maladie génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4924 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic disease Is a Disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital generalized hypercontractile muscle stiffness syndrome Is a True Genetic disease Inferred relationship Some
Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome Is a True Genetic disease Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) Is a 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 Is a True Genetic disease Inferred relationship Some
Hypogonadism with anosmia Is a True Genetic disease Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Genetic disease Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Inflammatory bowel disease, recurrent sinopulmonary infection syndrome Is a True Genetic disease Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder) Is a True Genetic disease Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Genetic disease Inferred relationship Some
Tubulinopathy-associated dysgyria (disorder) Is a True Genetic disease Inferred relationship Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Clear cell sarcoma of kidney Is a True Genetic disease Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Associated with True Genetic disease Inferred relationship Some 5
Hallermann Streiff like syndrome Is a True Genetic disease Inferred relationship Some
Nemaline myopathy Is a True Genetic disease Inferred relationship Some
Multiple paraganglioma associated with polycythaemia Is a True Genetic disease Inferred relationship Some
Infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia (disorder) Is a True Genetic disease Inferred relationship Some
Hyaline fibromatosis syndrome Is a True Genetic disease Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Associated with True Genetic disease Inferred relationship Some 3
Proximal myopathy with focal depletion of mitochondria Is a True Genetic disease Inferred relationship Some
Congenital myopathy with fibre type disproportion Is a True Genetic disease Inferred relationship Some
Amyotrophic lateral sclerosis type 6 Is a True Genetic disease Inferred relationship Some
Amyotrophic lateral sclerosis type 7 (disorder) Is a True Genetic disease Inferred relationship Some
Dysraphism, cleft lip and palate, limb reduction defect syndrome Is a True Genetic disease Inferred relationship Some
Fryns Smeets Thiry syndrome Is a True Genetic disease Inferred relationship Some
Congenital hydrocephalus, low insertion of umbilicus syndrome Is a True Genetic disease Inferred relationship Some
SATB2-associated syndrome Is a True Genetic disease Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Genetic disease Inferred relationship Some
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies Is a False Genetic disease Inferred relationship Some
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome Is a True Genetic disease Inferred relationship Some
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Mandibulofacial dysostosis with alopecia Is a True Genetic disease Inferred relationship Some
Diaphragmatic hernia, short bowel, asplenia syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Congenital fibrosis syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a True Genetic disease Inferred relationship Some
Pancreatic agenesis, holoprosencephaly syndrome Is a True Genetic disease Inferred relationship Some
Ephrin receptor B4-related lymphatic-related hydrops fetalis (disorder) Is a True Genetic disease Inferred relationship Some
PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis Is a True Genetic disease Inferred relationship Some
Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder) Is a True Genetic disease Inferred relationship Some
Congenital primary lymphedema of Gordon (disorder) Is a True Genetic disease Inferred relationship Some
GJC2-related late-onset primary lymphedema Is a True Genetic disease Inferred relationship Some
3-methylglutaconic aciduria type 8 Is a True Genetic disease Inferred relationship Some
Congenital secretory diarrhea, sodium type Is a True Genetic disease Inferred relationship Some
17q24.2 microdeletion syndrome (disorder) Is a True Genetic disease Inferred relationship Some
9q21.13 microdeletion syndrome Is a True Genetic disease Inferred relationship Some
19p13.3 microduplication syndrome (disorder) Is a True Genetic disease Inferred relationship Some
20q11.2 microdeletion syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Prader-Willi-like syndrome Is a True Genetic disease Inferred relationship Some
Timothy syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Femur fibula ulna complex Is a True Genetic disease Inferred relationship Some
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome Is a True Genetic disease Inferred relationship Some
Non-syndromic metopic craniosynostosis (disorder) Is a True Genetic disease Inferred relationship Some
Familial isolated retinal arterial tortuosity (disorder) Is a True Genetic disease Inferred relationship Some
MYH9 related disease Is a True Genetic disease Inferred relationship Some
Monogenic autoinflammatory syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Ovotesticular disorder of sex development Is a True Genetic disease Inferred relationship Some
Night blindness, skeletal anomalies, dysmorphism syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Exercise-induced malignant hyperthermia (disorder) Is a False Genetic disease Inferred relationship Some
Aprosencephaly cerebellar dysgenesis Is a True Genetic disease Inferred relationship Some
Symptomatic form of Coffin-Lowry syndrome in female carrier (disorder) Is a True Genetic disease Inferred relationship Some
Coffin-Lowry syndrome Is a True Genetic disease Inferred relationship Some
Lamb Shaffer syndrome Is a True Genetic disease Inferred relationship Some
Genetic disorder of skin pigmentation (disorder) Is a True Genetic disease Inferred relationship Some
Ichthyosis hystrix Is a True Genetic disease Inferred relationship Some
X-linked myotubular myopathy, abnormal genitalia syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Genetic disease Inferred relationship Some
Baraitser Winter cerebrofrontofacial syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Weismann Netter syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Menke Hennekam syndrome Is a True Genetic disease Inferred relationship Some
Dementia due to genetic disease (disorder) Due to True Genetic disease Inferred relationship Some 3
Genetic non-syndromic obesity (disorder) Is a True Genetic disease Inferred relationship Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Is a True Genetic disease Inferred relationship Some
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder Is a True Genetic disease Inferred relationship Some
Non-syndromic genetic hearing loss Is a True Genetic disease Inferred relationship Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Is a True Genetic disease Inferred relationship Some
Large congenital pigmented melanocytic nevus of skin (disorder) Is a True Genetic disease Inferred relationship Some
Adult vitelliform macular dystrophy Is a True Genetic disease Inferred relationship Some
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Mesomelic dysplasia Savarirayan type (disorder) Is a True Genetic disease Inferred relationship Some
MECP2 duplication syndrome Is a True Genetic disease Inferred relationship Some
Neurofibromatosis type 2 Is a True Genetic disease Inferred relationship Some
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a True Genetic disease Inferred relationship Some
Lecithin cholesterol acyltransferase deficiency Is a True Genetic disease Inferred relationship Some
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Genetic disease Inferred relationship Some
Atypical Fanconi syndrome, neonatal hyperinsulinism syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Malignant hyperthermia Is a True Genetic disease Inferred relationship Some

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