111311004: syndroom van partiële trisomie 20p (aandoening)

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

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

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\20p partial trisomy syndrome

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

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

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\20p partial trisomy syndrome

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
20p partial trisomy syndrome	Is a	Trisomy and partial trisomy of autosome	false	Inferred relationship	Some
20p partial trisomy syndrome	Is a	Anomaly of chromosome pair 20	false	Inferred relationship	Some
20p partial trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
20p partial trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
20p partial trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
20p partial trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
20p partial trisomy syndrome	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
20p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
20p partial trisomy syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
20p partial trisomy syndrome	Finding site	Chromosome pair 20	false	Inferred relationship	Some	1
20p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
20p partial trisomy syndrome	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
20p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
20p partial trisomy syndrome	Is a	Partial trisomy of chromosome 20 (disorder)	true	Inferred relationship	Some
20p partial trisomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
20p partial trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
20p partial trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
20p partial trisomy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
20p partial trisomy syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
20p partial trisomy syndrome	Is a	Multiple system malformation syndrome	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
178543013	20p partial trisomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
187734011	Trisomy 20p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
630209019	20p partial trisomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7955271000146110	syndroom van partiële trisomie 20p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7955281000146112	syndroom van partiële trisomie 20p (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7955291000146114	partiële trisomie van korte arm van chromosoom 20	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7955301000146113	partiële trisomie van chromosoom 20p	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4555934018	Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core