205653005: Trisomy 12 (disorder)

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

\anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12
\anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12
\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\Trisomy 12
\anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Trisomy 12

\Congenital disease\maladie chromosomique congénitale\...

\Anomaly of chromosome pair\anomalie du chromosome 12 (trouble)\Trisomy 12

\Trisomy and partial trisomy of autosome\Trisomy 12

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315395017 Trisomy 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591051011 Trisomy 12 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trisomy 12	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Trisomy 12	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some	1
Trisomy 12	est un(e) (attribut)	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Trisomy 12	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
Trisomy 12	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some	1
Trisomy 12	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Trisomy 12	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
Trisomy 12	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some	1
Trisomy 12	est un(e) (attribut)	anomalie du chromosome 12 (trouble)	true	Inferred relationship	Some
Trisomy 12	morphologie associée (attribut)	Trisomy	true	Inferred relationship	Some	1
Trisomy 12	localisation d'une constatation (attribut)	Chromosome pair 12 (cell structure)	true	Inferred relationship	Some	1
Trisomy 12	survenue (attribut)	congénital	false	Inferred relationship	Some
Trisomy 12	morphologie associée (attribut)	Alteration of chromosome structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Partial trisomy of chromosome 12	est un(e) (attribut)	True	Trisomy 12	Inferred relationship	Some
Mosaic trisomy 12 syndrome	est un(e) (attribut)	True	Trisomy 12	Inferred relationship	Some

This concept is not in any reference sets