53392002: congenitale anomalie van chromosomenpaar 16 (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 16

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 16

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

88771011 Anomaly of chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

791506016 Anomaly of chromosome pair 16 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6178381000146110 congenitale anomalie van chromosomenpaar 16 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6178391000146112 congenitale anomalie van chromosomenpaar 16 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6178401000146110 aangeboren afwijking van chromosomenpaar 16 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 16	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 16	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Anomaly of chromosome pair 16	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Finding site	Chromosome pair 16	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
syndroom van partiële monosomie 16q (aandoening)	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
syndroom van partiële trisomie 16q	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
Complete trisomy 16 syndrome	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
syndroom van partiële trisomie 16p	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
Chromosome 16p11.2 deletion syndrome	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
16p11.2p12.2 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
16p13.11 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 16	Inferred relationship	Some
Deletion of part of chromosome 16 (disorder)	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Partial trisomy of chromosome 16	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Ring chromosome 16 syndrome	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Mosaic trisomy 16 syndrome	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Maternal uniparental disomy of chromosome 16 (disorder)	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
16p12.1p12.3 triplication syndrome (disorder)	Is a	True	Anomaly of chromosome pair 16	Inferred relationship	Some
Frontotemporal dementia due to FUS mutation	Due to	True	Anomaly of chromosome pair 16	Inferred relationship	Some	3

Reference Sets