48812004: syndroom van partiële trisomie 17q (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 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17 (disorder)\17q partial trisomy syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17 (disorder)\17q 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

81340012 17q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

786422019 17q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

7950221000146118 syndroom van partiële trisomie 17q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7950231000146116 syndroom van partiële trisomie 17q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7950241000146112 partiële trisomie van lange arm van chromosoom 17 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7950251000146110 partiële trisomie van chromosoom 17q 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
17q partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
17q partial trisomy syndrome	Is a	Anomaly of chromosome pair 17	false	Inferred relationship	Some
17q partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
17q partial trisomy syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
17q partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
17q partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
17q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
17q partial trisomy syndrome	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
17q partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
17q partial trisomy syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Some	1
17q partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
17q partial trisomy syndrome	Is a	Partial trisomy of chromosome 17 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
17q21.31 microduplication syndrome (disorder)	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
17q11.2 microduplication syndrome (disorder)	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
17q12 microduplication syndrome	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
Distal trisomy 17q	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
Proximal duplication of long arm of chromosome 17 (disorder)	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)	Is a	True	17q partial trisomy syndrome	Inferred relationship	Some

Reference Sets