254288000: FRAXE (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\FRAXE

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

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

378522010 FRAXE en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

645160013 FRAXE (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2480071000052117 FRAXE 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
FRAXE	Is a	Fragile X chromosome	true	Inferred relationship	Some
FRAXE	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
FRAXE	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
FRAXE	Occurrence	Congenital	false	Inferred relationship	Some
FRAXE	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
FRAXE	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
FRAXE	Associated morphology	kongenital anomali	false	Inferred relationship	Some
FRAXE	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
FRAXE	Occurrence	Congenital	false	Inferred relationship	Some	1
FRAXE	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
FRAXE	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
FRAXE	Occurrence	Congenital	true	Inferred relationship	Some	2
FRAXE	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
FRAXE	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