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

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\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 disorder due to abnormality of chromosome number OR structure (disorder)\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 disorder due to abnormality of chromosome number OR structure (disorder)\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
3326437010	Familial and de novo recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females. To date, twelve patients have been described. All patients show moderate to severe intellectual deficit and speech delay. Seizures, early puberty and lower-extremity anomalies, including pes planus or cavus, fifth toe hypoplasia, and syndactyly, are common. Most affected females show preferential activation of the duplicated X chromosome. Duplications are mediated by nonallelic homologous recombination or Alu-mediated recombination.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
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

Expanded Value Set

Reference Sets

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

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