897546001: distale duplicatie op lange arm van chromosoom 12 (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 12\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 12\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 12\Partial trisomy of chromosome 12\12q partial trisomy syndrome\Distal trisomy 12q (disorder)

Status: current, Not 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

4034288010 Distal trisomy 12q (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4034289019 Distal trisomy 12q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

11973411000146117 distale trisomie 12q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12209501000146110 distale duplicatie op lange arm van chromosoom 12 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12209511000146112 distale duplicatie op lange arm van chromosoom 12 (aandoening) nl Fully specified name 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
Distal trisomy 12q (disorder)	Is a	12q partial trisomy syndrome	true	Inferred relationship	Some
Distal trisomy 12q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 12q (disorder)	Finding site	Chromosome pair 12	true	Inferred relationship	Some	1
Distal trisomy 12q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 12q (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Distal trisomy 12q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 12q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets