721881008: Microduplication Xp11.22p11.23 syndrome (disorder)

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

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

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5402729013 Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3326431011 Microduplication Xp11.22p11.23 syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3326432016 Microduplication Xp11.22p11.23 syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3326436018 Trisomy Xp11.22-p11.23 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

959701000172118 syndrome de microduplication Xp11.22p11.23 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

990291000172119 dup(X)(p11.22p11.23) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3420901001000119 Mikroduplikationssyndrom Xp11.22-p11.23 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
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Occurrence	Congenital	true	Inferred relationship	Some	1
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Finding site	Short arm of chromosome	true	Inferred relationship	Some	1
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Finding site	Sex chromosome X	true	Inferred relationship	Some	2
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Occurrence	Congenital	true	Inferred relationship	Some	2
Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

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Reference Sets

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