5982001: syndroom van partiële trisomie 2q (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 2\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2\Partial trisomy of chromosome 2 (disorder)\2q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 2 (disorder)\2q 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

10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7963541000146114 syndroom van partiële trisomie 2q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7963551000146112 syndroom van partiële trisomie 2q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7963561000146110 partiële trisomie van lange arm van chromosoom 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7963571000146116 partiële trisomie van chromosoom 2q 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
2q partial trisomy syndrome	Is a	Anomaly of chromosome pair 2	false	Inferred relationship	Some
2q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
2q partial trisomy syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
2q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
2q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
2q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
2q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
2q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
2q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1
2q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
2q partial trisomy syndrome	Is a	Partial trisomy of chromosome 2 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 2q	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
2q23.1 microduplication syndrome (disorder)	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
Syndactyly, nystagmus syndrome due to 2q31.1 microduplication	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
Medial duplication of long arm of chromosome 2	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 2	Is a	True	2q partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets