449819002: syndroom van partiële monosomie 3p (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 3 (disorder)\3p partial monosomy syndrome (disorder)

\Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\3p partial monosomy syndrome (disorder)

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

\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 3 (disorder)\3p partial monosomy syndrome (disorder)

\Anomaly of chromosome pair 3\Deletion of part of chromosome 3 (disorder)\3p partial monosomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2012. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2912647011 Chromosome 3p deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2912948016 3p partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2913030016 3p partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

8026501000146112 syndroom van partiële monosomie 3p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026511000146114 partiële monosomie van korte arm van chromosoom 3 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026521000146116 partiële monosomie 3p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8026531000146119 syndroom van partiële monosomie 3p (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
3p partial monosomy syndrome (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
3p partial monosomy syndrome (disorder)	Is a	Deletion of part of autosome	false	Inferred relationship	Some
3p partial monosomy syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
3p partial monosomy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
3p partial monosomy syndrome (disorder)	Is a	Anomaly of chromosome pair 3	false	Inferred relationship	Some
3p partial monosomy syndrome (disorder)	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	1
3p partial monosomy syndrome (disorder)	Finding site	Chromosome pair 3	true	Inferred relationship	Some	1
3p partial monosomy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
3p partial monosomy syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
3p partial monosomy syndrome (disorder)	Finding site	Chromosome pair 3	true	Inferred relationship	Some	2
3p partial monosomy syndrome (disorder)	Is a	Deletion of part of chromosome 3 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal deletion of short arm of chromosome 3 (disorder)	Is a	True	3p partial monosomy syndrome (disorder)	Inferred relationship	Some
Proximal deletion of short arm of chromosome 3	Is a	True	3p partial monosomy syndrome (disorder)	Inferred relationship	Some

Reference Sets