270521004: Trisomy and partial trisomy of autosome (disorder)

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

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome

\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome

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

405160017 Trisomy and partial trisomy of autosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

663157011 Trisomy and partial trisomy of autosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2478901000052118 autosomal trisomi och partiell trisomi 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
Trisomy and partial trisomy of autosome	Is a	Congenital chromosomal disease	true	Inferred relationship	Some
Trisomy and partial trisomy of autosome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Trisomy and partial trisomy of autosome	Occurrence	Congenital	false	Inferred relationship	Some
Trisomy and partial trisomy of autosome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Trisomy and partial trisomy of autosome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Finding site	Chromosome structure	true	Inferred relationship	Some	1
Trisomy and partial trisomy of autosome	Is a	Autosomal duplication (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Mosaic trisomy 14 syndrome (disorder)	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 15 syndrome	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 16 syndrome	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 17 syndrome (disorder)	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 2 syndrome	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 20 syndrome (disorder)	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 3 syndrome	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 4 syndrome (disorder)	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 5 syndrome (disorder)	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some
Mosaic trisomy 1 syndrome	Is a	True	Trisomy and partial trisomy of autosome	Inferred relationship	Some

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This concept is not in any reference sets