FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.10 | FHIR Version n/a User: [n/a]

715983001: Ring chromosome 8 syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\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)

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 8 syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Ring chromosome\Ring chromosome 8 syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 8 syndrome (disorder)	Is a	Anomaly of chromosome pair 8	true	Inferred relationship	Some
Ring chromosome 8 syndrome (disorder)	Is a	Chromosome replaced with ring or dicentric	false	Inferred relationship	Some
Ring chromosome 8 syndrome (disorder)	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 8 syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 8 syndrome (disorder)	Finding site	Chromosome pair 8	true	Inferred relationship	Some	1
Ring chromosome 8 syndrome (disorder)	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 8 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 8 syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for medical problems in patient health records

Back to Start

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
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
919931000172117	chromosome 8 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1018701000172113	syndrome du chromosome 8 en anneau	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
975661000172112	ringchromosoom 8 syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1014621000172117	r(8)-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)