718188007: 8p inverted duplication deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Duplication of chromosome\8p inverted duplication deletion syndrome
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\8p inverted duplication deletion syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\8p inverted duplication deletion syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311425013	8p inverted duplication deletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3311426014	8p inverted duplication deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3311427017	A rare chromosomal anomaly with clinical manifestations of mild to severe intellectual deficit, severe developmental delay, hypotonia with tendency to develop progressive hypertonia over time, minor facial anomalies and agenesis of the corpus callosum. Thirty to fifty percent of individuals have autism. An inverted duplication with a terminal deletion of the short arm of chromosome 8 mostly occurs as either an inverted duplication from centromere to D8S552 with a pter deletion from D8S349 or as an inverted duplication from 8p11.2 or 8p21 to D8S552, with a telomeric deletion from D8349. The input of the 8p deletion to the clinical picture appears less significant than the 8p inversion duplication rearrangement. To date, all invdupdel(8p) have occurred de novo.	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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