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205728002: duplicatie van chromosoom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
315494017 Duplication of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
591135018 Duplication of chromosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
10179001000146117 duplicatie van chromosoom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10179011000146115 duplicatie van chromosoom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10698311000146115 chromosoomduplicatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


235 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duplication of chromosome Is a Congenital chromosomal disease false Inferred relationship Some
Duplication of chromosome Occurrence Congenital false Inferred relationship Some
Duplication of chromosome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Duplication of chromosome Finding site Chromosome structure false Inferred relationship Some 1
Duplication of chromosome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
Duplication of chromosome Is a Chromosomal disorder (disorder) true Inferred relationship Some
Duplication of chromosome Finding site Chromosome structure false Inferred relationship Some
Duplication of chromosome Finding site Chromosome structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal duplication (disorder) Is a True Duplication of chromosome Inferred relationship Some
22q11.2 duplication syndrome (disorder) Is a False Duplication of chromosome Inferred relationship Some
MECP2 duplication syndrome Is a False Duplication of chromosome Inferred relationship Some
Chromosome 3q29 duplication syndrome (disorder) Is a False Duplication of chromosome Inferred relationship Some
8p inverted duplication deletion syndrome (disorder) Is a True Duplication of chromosome Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) Is a False Duplication of chromosome Inferred relationship Some
Xp22.13p22.2 duplication syndrome Is a True Duplication of chromosome Inferred relationship Some

This concept is not in any reference sets

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