718189004: Recombinant chromosome 8 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Recombinant chromosome 8 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Recombinant chromosome 8 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3311431011	Recombinant chromosome 8 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3311432016	Recombinant chromosome 8 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3311433014	San Luis Valley syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3311434015	Recombinant 8 syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 with characteristics of major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism. The prevalence is unknown but the syndrome is rare.	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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