548004: syndroom van partiële trisomie 13p (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\13p partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13p partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13p partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 13\Partial trisomy of chromosome 13\13p partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 13\13p partial trisomy syndrome

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

1987016 13p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

793072016 13p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7947161000146115 syndroom van partiële trisomie 13p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7947171000146114 syndroom van partiële trisomie 13p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7948881000146118 partiële trisomie van chromosoom 13p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7948891000146116 partiële trisomie van korte arm van chromosoom 13 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
13p partial trisomy syndrome	Is a	Anomaly of chromosome pair 13	false	Inferred relationship	Some
13p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
13p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
13p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
13p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
13p partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
13p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
13p partial trisomy syndrome	Finding site	Chromosome pair 13	false	Inferred relationship	Some	1
13p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
13p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
13p partial trisomy syndrome	Finding site	Chromosome pair 13	true	Inferred relationship	Some	1
13p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
13p partial trisomy syndrome	Is a	Partial trisomy of chromosome 13	true	Inferred relationship	Some

Inbound Relationships

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This concept is not in any reference sets