715983001: syndrome du chromosome 8 en anneau (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\maladie chromosomique congénitale\...

\Ring chromosome\syndrome du chromosome 8 en anneau

\Anomaly of chromosome pair\anomalie du chromosome 8 (trouble)\syndrome du chromosome 8 en anneau

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome du chromosome 8 en anneau
\Congenital disease\maladie chromosomique congénitale\Ring chromosome\syndrome du chromosome 8 en anneau
\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 8 (trouble)\syndrome du chromosome 8 en anneau

\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome du chromosome 8 en anneau

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

1018701000172113 syndrome du chromosome 8 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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

749021000241112 syndrome du chromosome 8 en anneau (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

919931000172117 chromosome 8 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome du chromosome 8 en anneau	est un(e) (attribut)	Ring chromosome	true	Inferred relationship	Some
syndrome du chromosome 8 en anneau	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome du chromosome 8 en anneau	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
syndrome du chromosome 8 en anneau	est un(e) (attribut)	anomalie du chromosome 8 (trouble)	true	Inferred relationship	Some
syndrome du chromosome 8 en anneau	est un(e) (attribut)	Chromosome replaced with ring or dicentric	false	Inferred relationship	Some
syndrome du chromosome 8 en anneau	morphologie associée (attribut)	Ring chromosome	true	Inferred relationship	Some	1
syndrome du chromosome 8 en anneau	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome du chromosome 8 en anneau	localisation d'une constatation (attribut)	Chromosome pair 8 (cell structure)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets