205728002: duplication chromosomique (trouble)

SNOMED CT Concept\constatation clinique\Disease\anomalie chromosomique\Duplication of chromosome

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)

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