35111009: Trisomy X syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\Trisomy X syndrome

\Anomaly of chromosome X\Trisomy X syndrome

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\Trisomy X syndrome

\Anomaly of chromosome X\Trisomy X syndrome

Status: current, 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

58596018 Trisomy X syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
58597010 XXX syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
766715016 Trisomy X syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1228248011 Triple X female en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1228249015 Karyotype 47, XXX en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set