254287005: FRAXA (disorder)

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

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome\FRAXA

\Congenital disease (disorder)\Congenital chromosomal disease\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

2478481000052119 FRAXA sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
FRAXA	Is a	Fragile X chromosome	true	Inferred relationship	Some
FRAXA	Occurrence	Congenital	false	Inferred relationship	Some
FRAXA	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
FRAXA	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
FRAXA	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
FRAXA	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
FRAXA	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
FRAXA	Associated morphology	kongenital anomali	false	Inferred relationship	Some
FRAXA	Occurrence	Congenital	false	Inferred relationship	Some	1
FRAXA	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
FRAXA	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
FRAXA	Occurrence	Congenital	true	Inferred relationship	Some	2
FRAXA	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
FRAXA	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets