782964007: Genetic disease (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease

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

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

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This concept is not in any reference sets