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429442006: Autosomal duplication (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2008. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
2690083019 Autosomal duplication (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2693522016 Autosomal duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2690083019 Autosomal duplication (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2690083019 Autosomal duplication (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2693522016 Autosomal duplication en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2693522016 Autosomal duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5309261000241118 duplication autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5309261000241118 duplication autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

232 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal duplication (disorder) Is a Autosomal chromosomal disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal duplication (disorder) Is a Duplication of chromosome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal duplication (disorder) Finding site Chromosome structure (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal duplication (disorder) Finding site Chromosome structure (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 1p Is a False Autosomal duplication (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal duplication of chromosome 21 Is a False Autosomal duplication (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal trisomy 1q (disorder) Is a False Autosomal duplication (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy and partial trisomy of autosome Is a True Autosomal duplication (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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