205720009: Fragile X chromosome (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\Anomaly of chromosome X\Fragile X chromosome

\Chromosomal disorder (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

4886521000241114 chromosome X fragile fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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	anomalie congénitale	false	Inferred relationship	Some	1
Fragile X chromosome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Fragile X chromosome	Associated morphology	anomalie congénitale	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 was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.	Is a	True	Fragile X chromosome	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by a variable clinical picture including developmental delay, mild to moderate intellectual disability, learning difficulties, communication deficits, and behavioral problems (such as aggression, attention deficit, hyperactivity, and autistic features). Personality disorder and psychotic behavior have also been reported.	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

This concept is not in any reference sets