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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

5059 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
Familial hyperinsulinemic hypoglycaemia Is a True Genetic disease Inferred relationship Some
Multiple endocrine neoplasia, type 1 Is a True Genetic disease Inferred relationship Some
Multiple endocrine neoplasia type 4 (disorder) Is a True Genetic disease Inferred relationship Some
Adult-onset progressive leukoencephalopathy, early-onset deafness (disorder) Is a True Genetic disease Inferred relationship Some
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Luscan Lumish syndrome Is a True Genetic disease Inferred relationship Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Alkaline phosphatase intestinal gene related inflammatory bowel disease (disorder) Is a True Genetic disease Inferred relationship Some
Tripartite motif-containing protein 22-related inflammatory bowel disease (disorder) Is a True Genetic disease Inferred relationship Some
Congenital pseudoarthrosis of limb (disorder) Is a True Genetic disease Inferred relationship Some
SMARCA2-related blepharophimosis, intellectual disability syndrome Is a True Genetic disease Inferred relationship Some
IRF2BPL-related regressive neurodevelopmental disorder, dystonia, seizures syndrome Is a True Genetic disease Inferred relationship Some
Congenital aphakia, iris hypoplasia, microphthalmia, microcornea syndrome Is a True Genetic disease Inferred relationship Some
Marfanoid habitus, facial dysmorphism, skeletal abnormality, heart defect syndrome Is a True Genetic disease Inferred relationship Some
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Early-onset obesity, hyperphagia, severe developmental delay syndrome Is a True Genetic disease Inferred relationship Some
Intermediate DEND syndrome Is a True Genetic disease Inferred relationship Some
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Facial dysmorphism, hypertrichosis, epilepsy, intellectual disability/developmental delay, gingival overgrowth syndrome (disorder) Is a True Genetic disease Inferred relationship Some
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome Is a True Genetic disease Inferred relationship Some
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Genetic screening for disorder Has focus True Genetic disease Inferred relationship Some 1
CHD8 overgrowth syndrome Is a True Genetic disease Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Is a True Genetic disease Inferred relationship Some
Schofer Beetz Bohl syndrome Is a True Genetic disease Inferred relationship Some
Thiemann disease familial form (disorder) Is a True Genetic disease Inferred relationship Some
Alexander disease Is a True Genetic disease Inferred relationship Some
CIMDAG syndrome Is a True Genetic disease Inferred relationship Some
Fragile X associated primary ovarian insufficiency Is a True Genetic disease Inferred relationship Some
Cystic fibrosis transmembrane conductance regulator-related disorder (disorder) Is a True Genetic disease Inferred relationship Some
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Genetic disease Inferred relationship Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a True Genetic disease Inferred relationship Some
PAPASH syndrome Is a True Genetic disease Inferred relationship Some

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