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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


5325 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
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Due to True Genetic disease Inferred relationship Some 5
Maturity-onset diabetes of the young, type 5 (disorder) Due to True Genetic disease Inferred relationship Some 2
Maturity onset diabetes of the young, type 2 (disorder) Due to True Genetic disease Inferred relationship Some 2
Intermediate DEND syndrome Due to True Genetic disease Inferred relationship Some 3
Oculodentodigital syndrome (disorder) Is a True Genetic disease Inferred relationship Some
Dibasic aminoaciduria Is a True Genetic disease Inferred relationship Some
Craniosynostosis, facial dysmorphism, Chiari-1 malformation, developmental and language delay syndrome Is a True Genetic disease Inferred relationship Some

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This concept is not in any reference sets

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