FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

79229009: chromosomenpaar 22 (celstructuur)

SNOMED CT Concept\Body structure\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 22

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
Chromosome pair 22	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 22	Part of	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ring chromosome 22 syndrome	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
22q partial monosomy (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Cat eye syndrome	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
22q partial trisomy (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Complete trisomy 22 syndrome	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
22q partial monosomy (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Cat eye syndrome	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Complete trisomy 22 syndrome	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
22q partial trisomy (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Complete trisomy 22 syndrome	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
Cat eye syndrome	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
Ring chromosome 22 syndrome	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
22q11.2 duplication syndrome (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Anomaly of chromosome pair 22	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
22q13.3 deletion syndrome	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
22q partial trisomy (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
22q partial monosomy (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
22q partial monosomy (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
Deletion of part of chromosome 22 (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
Partial trisomy of chromosome 22	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
Distal 22q11.2 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
Distal 22q11.2 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	3
Distal trisomy 22q syndrome (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Distal 22q11.2 microduplication syndrome (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Mosaic trisomy 22 syndrome	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
Trisomy 22	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
Mosaic trisomy 22 syndrome	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
22q11.2 deletion syndrome (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
22q11.2 deletion syndrome (disorder)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 22 (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
Monosomy 22 syndrome (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	1
22q11.2 duplication syndrome (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
22q13.3 deletion syndrome	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
Distal trisomy 22q syndrome (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
Distal 22q11.2 microduplication syndrome (disorder)	Finding site	True	Chromosome pair 22	Inferred relationship	Some	2
syndroom van partiële monosomie 22q11 (aandoening)	Finding site	False	Chromosome pair 22	Inferred relationship	Some	2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
131463018	Chromosome pair 22	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1204766018	Chromosome pair 22 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
792851000146111	chromosomenpaar 22	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
886291000146115	chromosomenpaar 22 (celstructuur)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)