205720009: Fragile X chromosome (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

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

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

315486012 Fragile X chromosome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

591126013 Fragile X chromosome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

5902321000172114 chromosome X fragile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4533151000172115 fragiele-X-chromosoom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

10845271000172118 X chromosoom fragiliteit nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
fraxa	Is a	False	Fragile X chromosome	Inferred relationship	Some
fraxe	Is a	False	Fragile X chromosome	Inferred relationship	Some
FRAXF syndrome (disorder)	Is a	True	Fragile X chromosome	Inferred relationship	Some
FRAXE intellectual disability syndrome (disorder)	Is a	True	Fragile X chromosome	Inferred relationship	Some
Fragile X chromosome screening test (procedure)	Has focus	True	Fragile X chromosome	Inferred relationship	Some	3
Fragile X syndrome	Is a	True	Fragile X chromosome	Inferred relationship	Some

Reference Sets

Belgian GP subset (foundation metadata concept)

Belgian subset for medical problems in patient health records