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50992006: 22q partial trisomy (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

\Congenital disease (disorder)\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy (disorder)

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
22q partial trisomy (disorder)	Is a	Anomaly of chromosome pair 22	false	Inferred relationship	Some
22q partial trisomy (disorder)	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
22q partial trisomy (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
22q partial trisomy (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some
22q partial trisomy (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	false	Inferred relationship	Some	1
22q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Finding site	Chromosome pair 22	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
22q partial trisomy (disorder)	Is a	Partial trisomy of chromosome 22	true	Inferred relationship	Some
22q partial trisomy (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
22q partial trisomy (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
22q partial trisomy (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
22q11.2 duplication syndrome (disorder)	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some
Distal trisomy 22q syndrome (disorder)	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some
Distal 22q11.2 microduplication syndrome (disorder)	Is a	True	22q partial trisomy (disorder)	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
84978016	22q partial trisomy syndrome	en	Synonym (core metadata concept)	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
788842014	22q partial trisomy syndrome (disorder)	en	Fully specified name	Inactive	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555269010	22q partial trisomy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4555270011	22q partial trisomy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2479031000052119	partiellt trisomi 22q-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)