43248007: Penta X syndrome (disorder)

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

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

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

\Anomaly of chromosome X\Penta X syndrome

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

\Sex chromosome abnormality - female phenotype\Female with more than three X chromosomes (disorder)\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

5919821000172113 syndrome de pentasomie X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

8969961000172118 pentasomie X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9015051000172110 syndrome 49,XXXXX fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

9015061000172112 syndrome Poly-X fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4558251000172116 49,XXXXX-syndroom nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4558261000172119 poly-X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4558271000172111 pentasomie X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4558281000172114 karyotype 49,XXXXX nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4558291000172112 penta-X nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian 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 (disorder)	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	Congenital anomaly	false	Inferred relationship	Some	1
Penta X syndrome	Associated morphology	Congenital anomaly	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