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254264002: Partial trisomy 21 in Down's syndrome (disorder)

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

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\Partial trisomy 21 in Down's syndrome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\Partial trisomy 21 in Down's syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\Partial trisomy 21 in Down's syndrome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\Partial trisomy 21 in Down's syndrome

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Partial trisomy of chromosome 21\Partial trisomy 21 in Down's syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 21\Partial trisomy 21 in Down's 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
Partial trisomy 21 in Down's syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Is a	Anomaly of chromosome pair 21	false	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Finding site	Chromosome pair 21	false	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Finding site	Chromosome pair 21	true	Inferred relationship	Some	1
Partial trisomy 21 in Down's syndrome	Is a	Partial trisomy of chromosome 21	true	Inferred relationship	Some
Partial trisomy 21 in Down's syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378494019	Partial trisomy 21 in Down's syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378495018	Trisomy 21 - translocation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645132011	Partial trisomy 21 in Down's syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2837910011	Partial trisomy 21 in Down syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2480491000052110	partiell trisomi 21 i Downs syndrom	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)