79656000: congenitale anomalie van chromosomenpaar 19 (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 19

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 19

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

132153018 Anomaly of chromosome pair 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

820730015 Anomaly of chromosome pair 19 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6361351000146112 congenitale anomalie van chromosomenpaar 19 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361361000146110 congenitale anomalie van chromosomenpaar 19 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6361371000146116 aangeboren afwijking van chromosomenpaar 19 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
Anomaly of chromosome pair 19	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 19	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 19	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 19	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 19	Finding site	Chromosome pair 19	false	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 19	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Finding site	Chromosome pair 19	false	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Anomaly of chromosome pair 19	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 19	Finding site	Chromosome pair 19	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
19q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 19	Inferred relationship	Some
19p13.12 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 19	Inferred relationship	Some
19q13.11 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 19	Inferred relationship	Some
Deletion of part of chromosome 19 (disorder)	Is a	True	Anomaly of chromosome pair 19	Inferred relationship	Some
Partial trisomy of chromosome 19	Is a	True	Anomaly of chromosome pair 19	Inferred relationship	Some
Ring chromosome 19 syndrome	Is a	True	Anomaly of chromosome pair 19	Inferred relationship	Some

This concept is not in any reference sets