31981007: syndroom van partiële monosomie 12p (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

53440014 12p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

763211015 12p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

8025751000146111 syndroom van partiële monosomie 12p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8025761000146114 partiële monosomie van korte arm van chromosoom 12 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8025771000146115 partiële monosomie 12p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8025781000146118 syndroom van partiële monosomie 12p (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
syndroom van partiële monosomie 12p	Is a	Deletion of part of autosome	false	Inferred relationship	Some
syndroom van partiële monosomie 12p	Is a	Anomaly of chromosome pair 12	false	Inferred relationship	Some
syndroom van partiële monosomie 12p	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Associated morphology	Deletion of short arm	false	Inferred relationship	Some
syndroom van partiële monosomie 12p	Associated morphology	Monosomy	false	Inferred relationship	Some
syndroom van partiële monosomie 12p	Finding site	Sex chromosome	false	Inferred relationship	Some
syndroom van partiële monosomie 12p	Occurrence	Congenital	false	Inferred relationship	Some
syndroom van partiële monosomie 12p	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
syndroom van partiële monosomie 12p	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Occurrence	Congenital	false	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Finding site	Chromosome pair 12	false	Inferred relationship	Some	1
syndroom van partiële monosomie 12p	Occurrence	Congenital	false	Inferred relationship	Some	2
syndroom van partiële monosomie 12p	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
syndroom van partiële monosomie 12p	Finding site	Chromosome pair 12	false	Inferred relationship	Some	2
syndroom van partiële monosomie 12p	Is a	Deletion of part of chromosome 12 (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)