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205728002: duplication chromosomique (trouble)


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
340381000077115 duplication chromosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
591135018 Duplication of chromosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
624781000077118 duplication chromosomique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)


235 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Duplication of chromosome localisation d'une constatation (attribut) Chromosome structure (cell structure) false Inferred relationship Some 1
Duplication of chromosome morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
Duplication of chromosome est un(e) (attribut) anomalie chromosomique true Inferred relationship Some
Duplication of chromosome localisation d'une constatation (attribut) Chromosome structure (cell structure) false Inferred relationship Some
Duplication of chromosome est un(e) (attribut) maladie chromosomique congénitale false Inferred relationship Some
Duplication of chromosome localisation d'une constatation (attribut) Chromosome structure (cell structure) true Inferred relationship Some 1
Duplication of chromosome survenue (attribut) congénital false Inferred relationship Some
Duplication of chromosome morphologie associée (attribut) Alteration of chromosome structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Xp22.13p22.2 duplication syndrome est un(e) (attribut) True Duplication of chromosome Inferred relationship Some
Autosomal duplication (disorder) est un(e) (attribut) True Duplication of chromosome Inferred relationship Some
22q11.2 duplication syndrome (disorder) est un(e) (attribut) False Duplication of chromosome Inferred relationship Some
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) est un(e) (attribut) False Duplication of chromosome Inferred relationship Some
Chromosome 3q29 duplication syndrome (disorder) est un(e) (attribut) False Duplication of chromosome Inferred relationship Some
8p inverted duplication deletion syndrome (disorder) est un(e) (attribut) True Duplication of chromosome Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) False Duplication of chromosome Inferred relationship Some

This concept is not in any reference sets

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