37506004: syndroom van partiële monosomie 4q (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 4 (disorder)\4q partial monosomy syndrome

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome

\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 4 (disorder)\4q partial monosomy syndrome

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4 (disorder)\4q partial monosomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

62555013 4q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
769381018 4q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2912992019 Chromosome 4q deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8026581000146115 syndroom van partiële monosomie 4q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026591000146118 partiële monosomie 4q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026601000146111 partiële monosomie van lange arm van chromosoom 4 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026611000146113 syndroom van partiële monosomie 4q 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
4q partial monosomy syndrome	Is a	Anomaly of chromosome pair 4	false	Inferred relationship	Some
4q partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
4q partial monosomy syndrome	Finding site	Chromosome pair 4	false	Inferred relationship	Some	1
4q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
4q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
4q partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
4q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
4q partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
4q partial monosomy syndrome	Finding site	Chromosome pair 4	false	Inferred relationship	Some	1
4q partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
4q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
4q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
4q partial monosomy syndrome	Finding site	Chromosome pair 4	true	Inferred relationship	Some	1
4q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
4q partial monosomy syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
4q partial monosomy syndrome	Finding site	Chromosome pair 4	true	Inferred relationship	Some	2
4q partial monosomy syndrome	Is a	Deletion of part of chromosome 4 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
4q21 microdeletion syndrome (disorder)	Is a	True	4q partial monosomy syndrome	Inferred relationship	Some
Distal monosomy 4q	Is a	True	4q partial monosomy syndrome	Inferred relationship	Some
Medial deletion of long arm of chromosome 4 (disorder)	Is a	True	4q partial monosomy syndrome	Inferred relationship	Some
Proximal deletion of long arm of chromosome 4 (disorder)	Is a	True	4q partial monosomy syndrome	Inferred relationship	Some

Reference Sets