722430008: Distal trisomy 6p syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6p partial trisomy syndrome\Distal trisomy 6p syndrome
• \Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6p partial trisomy syndrome\Distal trisomy 6p syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6\6p partial trisomy syndrome\Distal trisomy 6p syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6p partial trisomy syndrome\Distal trisomy 6p syndrome
• \Congenital disease\Congenital chromosomal disease\...
• \Anomaly of chromosome pair\Anomaly of chromosome pair 6\Partial trisomy of chromosome 6\6p partial trisomy syndrome\Distal trisomy 6p syndrome
• \Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 6\6p partial trisomy syndrome\Distal trisomy 6p syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3332034019	Distal duplication 6p	en	Synonym	Active	Case insensitive	SNOMED CT core
3332035018	Telomeric duplication 6p	en	Synonym	Active	Case insensitive	SNOMED CT core
3332036017	Distal trisomy 6p syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3332037014	Distal trisomy 6p syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332038016	Distal trisomy of the short arm of chromosome 6 has characteristics of pre and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay. The duplicated region almost always includes 6pter, with proximal breakpoints ranging from 6p21 to 6p25. Interstitial duplications of 6p have also been reported with different phenotypes depending on their size and location. Most cases of distal trisomy 6p result from missegregation of a familial balanced translocation, or pericentric inversion, and are accompanied by another chromosomal imbalance. Intrachromosomal duplications or de novo translocations are also observed.	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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