66985009: syndroom van partiële trisomie 18q (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 18\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18 (disorder)\18q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18 (disorder)\18q 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

111264019 18q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

111265018 Grouchy-Lamy-Salmon-Landry syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

806658019 18q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7955131000146118 syndroom van partiële trisomie 18q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7955141000146114 syndroom van partiële trisomie 18q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7955151000146112 partiële trisomie van lange arm van chromosoom 18 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7955161000146110 partiële trisomie van chromosoom 18q 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
18q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
18q partial trisomy syndrome	Is a	Anomaly of chromosome pair 18	false	Inferred relationship	Some
18q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
18q partial trisomy syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
18q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
18q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
18q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
18q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
18q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
18q partial trisomy syndrome	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
18q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
18q partial trisomy syndrome	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
18q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
18q partial trisomy syndrome	Is a	Partial trisomy of chromosome 18 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal trisomy 18q	Is a	True	18q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 18	Is a	True	18q partial trisomy syndrome	Inferred relationship	Some

This concept is not in any reference sets