205624009: trisomie 18 door mozaïcisme door mitotische non-disjunctie (aandoening)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Whole chromosome trisomy - mitotic nondisjunction mosaicism\Trisomy 18 - mitotic nondisjunction mosaicism
\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Whole chromosome trisomy - mitotic nondisjunction mosaicism\Trisomy 18 - mitotic nondisjunction mosaicism
\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Whole chromosome trisomy - mitotic nondisjunction mosaicism\Trisomy 18 - mitotic nondisjunction mosaicism
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Whole chromosome trisomy - mitotic nondisjunction mosaicism\Trisomy 18 - mitotic nondisjunction mosaicism
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism

\Developmental disorder\Congenital malformation\Complete trisomy 18 syndrome\Trisomy 18 - mitotic nondisjunction mosaicism

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
Trisomy 18 - mitotic nondisjunction mosaicism	Is a	Complete trisomy 18 syndrome	true	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Sex chromosome	false	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	Trisomy	true	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Occurrence	Congenital	false	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	true	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	false	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	Trisomy	false	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Occurrence	Congenital	true	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Finding site	Chromosome pair 18	true	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Is a	Whole chromosome trisomy - mitotic nondisjunction mosaicism	true	Inferred relationship	Some
Trisomy 18 - mitotic nondisjunction mosaicism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Trisomy 18 - mitotic nondisjunction mosaicism	Occurrence	Congenital	true	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Associated morphology	Chromosome mosaicism	true	Inferred relationship	Some	2
Trisomy 18 - mitotic nondisjunction mosaicism	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
315355019	Trisomy 18 - mitotic nondisjunction mosaicism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
591019010	Trisomy 18 - mitotic nondisjunction mosaicism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3709071000146113	trisomie 18 door mozaïcisme door mitotische non-disjunctie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3709081000146110	trisomie 18 door mozaïcisme door mitotische non-disjunctie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3709091000146112	syndroom van Edwards door mozaïcisme door non-disjunctie tijdens mitose	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)