205657006: Whole chromosome trisomy, mosaicism (disorder)

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

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

\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Whole chromosome trisomy, mosaicism

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

315399011 Whole chromosome trisomy, mosaicism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

315400016 Whole chromosome trisomy, mitotic nondisjunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591055019 Whole chromosome trisomy, mosaicism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2480521000052113 trisomi för hel kromosom, mosaikism 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
Whole chromosome trisomy, mosaicism	Is a	Trisomy and partial trisomy of autosome	true	Inferred relationship	Some
Whole chromosome trisomy, mosaicism	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Whole chromosome trisomy, mosaicism	Occurrence	Congenital	false	Inferred relationship	Some
Whole chromosome trisomy, mosaicism	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Associated morphology	kongenital anomali	false	Inferred relationship	Some
Whole chromosome trisomy, mosaicism	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Occurrence	Congenital	true	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Finding site	Chromosome structure	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets