1003389000: Mosaic 1q duplication (disorder)

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

\anomalie chromosomique\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication
\anomalie chromosomique\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication
\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication
\anomalie chromosomique\maladie chromosomique congénitale\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

\Congenital disease\maladie chromosomique congénitale\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1 (disorder)\Mosaic 1q duplication

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4168139015 Mosaic 1q duplication en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168140018 Mosaic 1q duplication (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
Mosaic 1q duplication	est un(e) (attribut)	Mosaic trisomy 1 syndrome	false	Inferred relationship	Some
Mosaic 1q duplication	morphologie associée (attribut)	Chromosome mosaicism	true	Inferred relationship	Some	1
Mosaic 1q duplication	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Mosaic 1q duplication	localisation d'une constatation (attribut)	Chromosome pair 1 (cell structure)	true	Inferred relationship	Some	1
Mosaic 1q duplication	localisation d'une constatation (attribut)	Chromosome pair 1 (cell structure)	true	Inferred relationship	Some	3
Mosaic 1q duplication	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	3
Mosaic 1q duplication	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Mosaic 1q duplication	est un(e) (attribut)	Partial trisomy of long arm of chromosome 1 (disorder)	true	Inferred relationship	Some
Mosaic 1q duplication	localisation d'une constatation (attribut)	Long arm of chromosome (cell structure)	true	Inferred relationship	Some	2
Mosaic 1q duplication	morphologie associée (attribut)	Partial trisomy	true	Inferred relationship	Some	2
Mosaic 1q duplication	survenue (attribut)	congénital	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets