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41669009: Alteration of chromosome structure (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure (morphologic abnormality)\Cellular AND/OR subcellular abnormality\Chromosomal morphology\Alteration of chromosome structure

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

69509012 Alteration of chromosome structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

778483011 Alteration of chromosome structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

98811000052112 förändring av kromosomstruktur sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alteration of chromosome structure	Is a	Chromosomal morphology	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Uniparental disomy of maternal origin (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Uniparental disomy of paternal origin (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 20 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 20 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 2 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 6 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 9	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 4	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 21 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 1 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 7	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
X small rings	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 5 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 1 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 6	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 13	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 13	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 16 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 21	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 22 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Mosaic genome-wide paternal uniparental disomy	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome X	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome X (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 15	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 11	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 14	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 7 (disorder)	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 4	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 15	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 14	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1
Paternal uniparental disomy of chromosome 11	Associated morphology	True	Alteration of chromosome structure	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
69509012	Alteration of chromosome structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
778483011	Alteration of chromosome structure (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
98811000052112	förändring av kromosomstruktur	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)