26480007: syndroom van partiële trisomie 11p (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)\11p partial trisomy syndrome

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

44346016 11p partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

756916014 11p partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7943791000146119 syndroom van partiële trisomie 11p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7943801000146115 syndroom van partiële trisomie 11p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7948551000146113 partiële trisomie van korte 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)

7948561000146111 partiële trisomie van chromosoom 11p 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
11p partial trisomy syndrome	Is a	Anomaly of chromosome pair 11 (disorder)	false	Inferred relationship	Some
11p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
11p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
11p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
11p partial trisomy syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
11p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
11p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
11p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
11p partial trisomy syndrome	Finding site	Chromosome pair 11	false	Inferred relationship	Some	1
11p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
11p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
11p partial trisomy syndrome	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
11p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
11p partial trisomy syndrome	Is a	Partial trisomy of chromosome 11 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
11p15 duplication syndrome (disorder)	Is a	True	11p partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets