726360002: trisomie partielle du chromosome 20 (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20
\anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20
\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 20\trisomie partielle du chromosome 20
\anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20

\Congenital disease\maladie chromosomique congénitale\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 20\trisomie partielle du chromosome 20

\Trisomy and partial trisomy of autosome\trisomie partielle du chromosome 20

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1019021000172114 trisomie partielle du chromosome 20 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3498327017 Partial trisomy of chromosome 20 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498328010 Duplication of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3498329019 Partial trisomy of chromosome 20 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

761971000241118 trisomie partielle du chromosome 20 (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

902941000172119 duplication partielle du chromosome 20 fr Synonym (core metadata concept) 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
trisomie partielle du chromosome 20	est un(e) (attribut)	Anomaly of chromosome pair 20	true	Inferred relationship	Some
trisomie partielle du chromosome 20	est un(e) (attribut)	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
trisomie partielle du chromosome 20	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	1
trisomie partielle du chromosome 20	survenue (attribut)	congénital	true	Inferred relationship	Some	1
trisomie partielle du chromosome 20	localisation d'une constatation (attribut)	Chromosome pair 20 (cell structure)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
20q partial trisomy (disorder)	est un(e) (attribut)	True	trisomie partielle du chromosome 20	Inferred relationship	Some
20p partial trisomy syndrome	est un(e) (attribut)	True	trisomie partielle du chromosome 20	Inferred relationship	Some

This concept is not in any reference sets