897511009: distale duplicatie op lange arm van chromosoom 7 (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 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal trisomy 7q (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal trisomy 7q (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal trisomy 7q (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal trisomy 7q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal trisomy 7q (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7 (disorder)\7q partial trisomy (disorder)\Distal trisomy 7q (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

4034212019 Distal trisomy 7q (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4034213012 Distal trisomy 7q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
11974631000146111 distale trisomie 7q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12209581000146118 distale duplicatie op lange arm van chromosoom 7 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12209591000146116 distale duplicatie op lange arm van chromosoom 7 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
Distal trisomy 7q (disorder)	Is a	7q partial trisomy (disorder)	true	Inferred relationship	Some
Distal trisomy 7q (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Distal trisomy 7q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal trisomy 7q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Distal trisomy 7q (disorder)	Finding site	Chromosome pair 7	true	Inferred relationship	Some	2
Distal trisomy 7q (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Distal trisomy 7q (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets