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29379007: syndroom van partiële monosomie 8q (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 8 (disorder)\8q partial monosomy syndrome

\Anomaly of chromosome pair 8\Deletion of part of chromosome 8 (disorder)\8q 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 8 (disorder)\8q partial monosomy syndrome

\Anomaly of chromosome pair 8\Deletion of part of chromosome 8 (disorder)\8q 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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
8q partial monosomy syndrome	Is a	Deletion of part of autosome	false	Inferred relationship	Some
8q partial monosomy syndrome	Is a	Anomaly of chromosome pair 8	false	Inferred relationship	Some
8q partial monosomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
8q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	2
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	2
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	2
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	2
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	1
8q partial monosomy syndrome	Finding site	Chromosome pair 8	false	Inferred relationship	Some	2
8q partial monosomy syndrome	Associated morphology	Deletion of long arm	false	Inferred relationship	Some
8q partial monosomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
8q partial monosomy syndrome	Associated morphology	Monosomy	false	Inferred relationship	Some
8q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
8q partial monosomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
8q partial monosomy syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1
8q partial monosomy syndrome	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	1
8q partial monosomy syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
8q partial monosomy syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Some	2
8q partial monosomy syndrome	Is a	Deletion of part of chromosome 8 (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
8q21.11 microdeletion syndrome (disorder)	Is a	True	8q partial monosomy syndrome	Inferred relationship	Some
8q22.1 microdeletion syndrome (disorder)	Is a	True	8q partial monosomy syndrome	Inferred relationship	Some
8q13 microdeletion syndrome (disorder)	Is a	True	8q partial monosomy syndrome	Inferred relationship	Some
Distal deletion of long arm of chromosome 8 (disorder)	Is a	True	8q partial monosomy syndrome	Inferred relationship	Some
Proximal deletion of long arm of chromosome 8	Is a	True	8q partial monosomy syndrome	Inferred relationship	Some
8q24.3 microdeletion syndrome (disorder)	Is a	True	8q partial monosomy syndrome	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
49153016	8q partial monosomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
760266018	8q partial monosomy syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7877021000146118	partiële monosomie 8q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026911000146118	syndroom van partiële monosomie 8q (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026921000146111	syndroom van partiële monosomie 8q	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026941000146117	partiële monosomie van lange arm van chromosoom 8	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)