782669004: 10q22.3q23.3 microduplication syndrome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\A rare, chromosomal anomaly characterized by 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.

\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\A rare, chromosomal anomaly characterized by 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.

\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\A rare, chromosomal anomaly characterized by 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.
\Chromosomal disorder (disorder)\Duplication of chromosome\Autosomal duplication (disorder)\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\A rare, chromosomal anomaly characterized by 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.
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 10\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\A rare, chromosomal anomaly characterized by 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.
\Chromosomal disorder (disorder)\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Trisomy 10\Partial trisomy of chromosome 10 (disorder)\10q partial trisomy syndrome\A rare, chromosomal anomaly characterized by 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.

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

Descriptions:

Id Description Lang Type Status Case? Module

5405624017 A rare, chromosomal anomaly characterized by 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

5405625016 A rare, chromosomal anomaly characterised by 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

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

7663351000241119 trisomie 10q22.3q23.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

7663361000241116 syndrome de microduplication 10q22.3q23.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3396931001000114 Mikroduplikationssyndrom 10q22.3q23.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare, chromosomal anomaly characterized by 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.	Occurrence	Congenital	true	Inferred relationship	Some	2
A rare, chromosomal anomaly characterized by 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.	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
A rare, chromosomal anomaly characterized by 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.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare, chromosomal anomaly characterized by 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.	Is a	10q partial trisomy syndrome	true	Inferred relationship	Some
A rare, chromosomal anomaly characterized by 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.	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
A rare, chromosomal anomaly characterized by 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.	Finding site	Chromosome pair 10	true	Inferred relationship	Some	2
A rare, chromosomal anomaly characterized by 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.	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1

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Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5405624017	A rare, chromosomal anomaly characterized by 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
5405625016	A rare, chromosomal anomaly characterised by 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
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
7663351000241119	trisomie 10q22.3q23.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7663361000241116	syndrome de microduplication 10q22.3q23.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3396931001000114	Mikroduplikationssyndrom 10q22.3q23.3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module