715983001: Ring chromosome 8 syndrome (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 8 syndrome
• \Anomaly of chromosome pair\Anomaly of chromosome pair 8\Ring chromosome 8 syndrome
• \Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 8 syndrome
• \Congenital disease\Congenital chromosomal disease\Ring chromosome\Ring chromosome 8 syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Ring chromosome 8 syndrome
• \Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Ring chromosome 8 syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304316012	Ring chromosome 8 syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304317015	Ring chromosome 8 syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304318013	Chromosome 8 derived supernumerary ring	en	Synonym	Active	Case insensitive	SNOMED CT core
5155234014	A rare chromosomal anomaly from a variable part of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and intellectual disability overlapping with the well-known mosaic trisomy 8 syndrome.	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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