4874006: syndroom van partiële trisomie 11q (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 11 (disorder)\Partial trisomy of chromosome 11 (disorder)\11q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11 (disorder)\Partial trisomy of chromosome 11 (disorder)\11q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 11 (disorder)\11q 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

9119014 11q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

786342010 11q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7943821000146111 syndroom van partiële trisomie 11q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7943841000146117 syndroom van partiële trisomie 11q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7948671000146116 partiële trisomie van chromosoom 11q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7948681000146119 partiële trisomie van lange arm van chromosoom 11 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
11q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
11q partial trisomy syndrome	Is a	Anomaly of chromosome pair 11 (disorder)	false	Inferred relationship	Some
11q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
11q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
11q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
11q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
11q partial trisomy syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
11q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
11q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
11q partial trisomy syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
11q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
11q partial trisomy syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
11q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
11q partial trisomy syndrome	Is a	Partial trisomy of chromosome 11 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 11q (disorder)	Is a	True	11q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 11	Is a	True	11q partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets