715983001: syndroom van ringchromosoom 8 (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Disorder of foetus and/or newborn\Congenital disease (disorder)\...
• \Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 8 syndrome (disorder)
• \Congenital chromosomal disease\Ring chromosome\Ring chromosome 8 syndrome (disorder)
• \Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Ring chromosome 8 syndrome (disorder)
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\...
• \Ring chromosome\Ring chromosome 8 syndrome (disorder)
• \Anomaly of chromosome pair\Anomaly of chromosome pair 8\Ring chromosome 8 syndrome (disorder)
• \Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 8 syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304317015	Ring chromosome 8 syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304318013	Chromosome 8 derived supernumerary ring	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10257071000146117	syndroom van ringchromosoom 8	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10257081000146115	syndroom van ringchromosoom 8 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10257091000146118	ringchromosoom 8-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3304319017	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 mental retardation overlapping with the well-known mosaic trisomy 8 syndrome.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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