32107005: congenitale anomalie van chromosomenpaar 17 (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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

53647017 Anomaly of chromosome pair 17 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
53648010 Anomaly of chromosome pair 17, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
763352014 Anomaly of chromosome pair 17 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6178411000146112 congenitale anomalie van chromosomenpaar 17 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6178421000146119 aangeboren afwijking van chromosomenpaar 17 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6178431000146117 congenitale anomalie van chromosomenpaar 17 (aandoening) nl Fully specified name 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
Anomaly of chromosome pair 17	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 17	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Anomaly of chromosome pair 17	Finding site	Chromosome pair 17	false	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 17	Finding site	Chromosome pair 17	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
17q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 17	Inferred relationship	Some
17p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 17	Inferred relationship	Some
Deletion of long arm of chromosome 17	Is a	False	Anomaly of chromosome pair 17	Inferred relationship	Some
Koolen De Vries syndrome (disorder)	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
Deletion of part of chromosome 17 (disorder)	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
Partial trisomy of chromosome 17 (disorder)	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
Mosaic trisomy 17 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some
Ring chromosome 17 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 17	Inferred relationship	Some

This concept is not in any reference sets