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

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Microduplication Xp11.22p11.23 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microduplication Xp11.22p11.23 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Microduplication Xp11.22p11.23 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microduplication Xp11.22p11.23 syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326431011	Microduplication Xp11.22p11.23 syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3326432016	Microduplication Xp11.22p11.23 syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3326436018	Trisomy Xp11.22-p11.23	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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