205657006: trisomie van geheel chromosoom door mozaïcisme (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Whole chromosome trisomy, mosaicism

\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

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
3709441000146110 trisomie van geheel chromosoom door mozaïcisme (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3709451000146113 trisomie van geheel chromosoom door mozaïcisme nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands 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	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Whole chromosome trisomy, mosaicism	Associated morphology	congenitale anomalie (afwijkende morfologie)	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

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets