43248007: Penta X syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\Female with more than three X chromosomes\Penta X syndrome

\Anomaly of chromosome X\Penta X syndrome

\Chromosomal disorder (disorder)\Congenital disorder due to abnormality of chromosome number OR structure (disorder)\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - female phenotype\Female with more than three X chromosomes\Penta X syndrome

\Anomaly of chromosome X\Penta X syndrome

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

72156019 Penta X syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

72157011 XXXXX syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

72158018 Five X syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

780237011 Penta X syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1723431000005113 Penta X-syndrom da Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Penta X syndrome	Is a	Female with more than three X chromosomes	true	Inferred relationship	Some
Penta X syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Penta X syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Penta X syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Penta X syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Penta X syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Penta X syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Penta X syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Penta X syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Penta X syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Penta X syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Penta X syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Penta X syndrome	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
Penta X syndrome	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