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53346000: Complete trisomy 20 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\Complete trisomy 20 syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 20 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Complete trisomy 20 syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 20 syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\Complete trisomy 20 syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Complete trisomy 20 syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 20 syndrome (disorder)

\Developmental disorder\Congenital malformation\Complete trisomy 20 syndrome (disorder)

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

88705015 Complete trisomy 20 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

791455010 Complete trisomy 20 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2479171000052118 komplett trisomi 20-syndrom 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
Complete trisomy 20 syndrome (disorder)	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Is a	Anomaly of chromosome pair 20	true	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Finding site	Sex chromosome	false	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Associated morphology	Trisomy	false	Inferred relationship	Some	2
Complete trisomy 20 syndrome (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Complete trisomy 20 syndrome (disorder)	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Associated morphology	Trisomy	true	Inferred relationship	Some	1
Complete trisomy 20 syndrome (disorder)	Is a	Congenital malformation	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
88705015	Complete trisomy 20 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
791455010	Complete trisomy 20 syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2479171000052118	komplett trisomi 20-syndrom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)