36608002: syndroom van partiële monosomie 16q (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

61093012 16q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

768380014 16q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8025991000146118 syndroom van partiële monosomie 16q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026001000146119 syndroom van partiële monosomie 16q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026011000146117 partiële monosomie van lange arm van chromosoom 16 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026021000146110 partiële monosomie 16q 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
syndroom van partiële monosomie 16q (aandoening)	Is a	Deletion of part of autosome	false	Inferred relationship	Some
syndroom van partiële monosomie 16q (aandoening)	Is a	Anomaly of chromosome pair 16	false	Inferred relationship	Some
syndroom van partiële monosomie 16q (aandoening)	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
syndroom van partiële monosomie 16q (aandoening)	Finding site	Sex chromosome	false	Inferred relationship	Some
syndroom van partiële monosomie 16q (aandoening)	Occurrence	Congenital	false	Inferred relationship	Some
syndroom van partiële monosomie 16q (aandoening)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
syndroom van partiële monosomie 16q (aandoening)	Associated morphology	Monosomy	false	Inferred relationship	Some
syndroom van partiële monosomie 16q (aandoening)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
syndroom van partiële monosomie 16q (aandoening)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
syndroom van partiële monosomie 16q (aandoening)	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
syndroom van partiële monosomie 16q (aandoening)	Occurrence	Congenital	false	Inferred relationship	Some	2
syndroom van partiële monosomie 16q (aandoening)	Occurrence	Congenital	false	Inferred relationship	Some	1
syndroom van partiële monosomie 16q (aandoening)	Finding site	Chromosome pair 16	false	Inferred relationship	Some	1
syndroom van partiële monosomie 16q (aandoening)	Finding site	Chromosome pair 16	false	Inferred relationship	Some	2
syndroom van partiële monosomie 16q (aandoening)	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
syndroom van partiële monosomie 16q (aandoening)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
syndroom van partiële monosomie 16q (aandoening)	Is a	Deletion of part of chromosome 16 (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q24.3 microdeletion syndrome (disorder)	Is a	False	syndroom van partiële monosomie 16q (aandoening)	Inferred relationship	Some
16q24.1 microdeletion syndrome (disorder)	Is a	False	syndroom van partiële monosomie 16q (aandoening)	Inferred relationship	Some
Distal deletion of long arm of chromosome 16	Is a	False	syndroom van partiële monosomie 16q (aandoening)	Inferred relationship	Some
Proximal deletion of long arm of chromosome 16 (disorder)	Is a	False	syndroom van partiële monosomie 16q (aandoening)	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)