254287005: FRAXA (disorder)

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

\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXA

\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXA

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378521015 FRAXA en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

645159015 FRAXA (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FRAXA	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
FRAXA	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
FRAXA	localisation d'une constatation (attribut)	Sex chromosome X (cell structure)	false	Inferred relationship	Some	1
FRAXA	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some
FRAXA	survenue (attribut)	congénital	false	Inferred relationship	Some	1
FRAXA	morphologie associée (attribut)	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
FRAXA	localisation d'une constatation (attribut)	Sex chromosome X (cell structure)	false	Inferred relationship	Some	1
FRAXA	survenue (attribut)	congénital	false	Inferred relationship	Some
FRAXA	localisation d'une constatation (attribut)	Sex chromosome X (cell structure)	false	Inferred relationship	Some	1
FRAXA	morphologie associée (attribut)	Alteration of chromosome structure	false	Inferred relationship	Some
FRAXA	survenue (attribut)	congénital	true	Inferred relationship	Some	2
FRAXA	morphologie associée (attribut)	Chromosomal morphology	true	Inferred relationship	Some	2
FRAXA	localisation d'une constatation (attribut)	Sex chromosome X (cell structure)	true	Inferred relationship	Some	2
FRAXA	est un(e) (attribut)	Fragile X chromosome	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets