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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
4359531000052110 genetisk sjukdom sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

4493 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
Malignant melanoma with BRAF V600 mutation Is a True Genetic disease Inferred relationship Some
Malignant tumor of large intestine with BRAF V600 mutation Is a True Genetic disease Inferred relationship Some
Non-small cell lung cancer with BRAF V600 mutation Is a True Genetic disease Inferred relationship Some
Non-small cell lung cancer with kirsten rat sarcoma G12C mutation (disorder) Is a True Genetic disease Inferred relationship Some

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