782669004: syndroom van 10q22.3q23.3-microduplicatie (aandoening)

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

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)

\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10 (disorder)\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\10q22.3q23.3 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
10q22.3q23.3 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
10q22.3q23.3 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
10q22.3q23.3 microduplication syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
10q22.3q23.3 microduplication syndrome (disorder)	Is a	10q partial trisomy syndrome	true	Inferred relationship	Some
10q22.3q23.3 microduplication syndrome (disorder)	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
10q22.3q23.3 microduplication syndrome (disorder)	Finding site	Chromosome pair 10 (cell structure)	true	Inferred relationship	Some	2
10q22.3q23.3 microduplication syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3755079010	10q22.3q23.3 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755080013	10q22.3q23.3 microduplication syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3755081012	Trisomy 10q22.3q23.3	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
7888711000146119	10q22.3q23.3-microduplicatiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7943751000146114	syndroom van 10q22.3q23.3-microduplicatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8723611000146115	syndroom van 10q22.3q23.3-microduplicatie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3755082017	A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core