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30361005: syndroom van partiële monosomie 1q (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 1 (disorder)\1q partial monosomy

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy

\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 1 (disorder)\1q partial monosomy

\Anomaly of chromosome pair 1\Deletion of part of chromosome 1 (disorder)\1q partial monosomy

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
1q partial monosomy	Is a	Deletion of part of autosome	false	Inferred relationship	Some
1q partial monosomy	Is a	Anomaly of chromosome pair 1	false	Inferred relationship	Some
1q partial monosomy	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
1q partial monosomy	Occurrence	Congenital	false	Inferred relationship	Some
1q partial monosomy	Finding site	Sex chromosome	false	Inferred relationship	Some
1q partial monosomy	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
1q partial monosomy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
1q partial monosomy	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	1
1q partial monosomy	Finding site	Chromosome pair 1	false	Inferred relationship	Some	1
1q partial monosomy	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some
1q partial monosomy	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
1q partial monosomy	Occurrence	Congenital	true	Inferred relationship	Some	1
1q partial monosomy	Finding site	Chromosome pair 1	true	Inferred relationship	Some	1
1q partial monosomy	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
1q partial monosomy	Occurrence	Congenital	true	Inferred relationship	Some	2
1q partial monosomy	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
1q partial monosomy	Finding site	Chromosome pair 1	false	Inferred relationship	Some	2
1q partial monosomy	Is a	Deletion of part of chromosome 1 (disorder)	true	Inferred relationship	Some
1q partial monosomy	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
1q partial monosomy	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
1q21.1 microdeletion	Is a	True	1q partial monosomy	Inferred relationship	Some
1q41q42 microdeletion syndrome (disorder)	Is a	True	1q partial monosomy	Inferred relationship	Some
1q44 microdeletion syndrome (disorder)	Is a	True	1q partial monosomy	Inferred relationship	Some
Medial deletion of long arm of chromosome 1	Is a	True	1q partial monosomy	Inferred relationship	Some
Proximal deletion of long arm of chromosome 1 (disorder)	Is a	True	1q partial monosomy	Inferred relationship	Some
Distal monosomy 1q syndrome	Is a	True	1q partial monosomy	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
50815014	1q partial monosomy syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
761357011	1q partial monosomy syndrome (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555235014	1q partial monosomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555236010	1q partial monosomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
8026351000146115	partiële monosomie 1q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026361000146117	syndroom van partiële monosomie 1q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026371000146111	partiële monosomie van lange arm van chromosoom 1	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026381000146113	syndroom van partiële monosomie 1q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)