43248007: Penta X syndrome (disorder)

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

\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\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

\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\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. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

72156019 Penta X syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

72157011 XXXXX syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

72158018 Five X syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

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

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	Existential restriction modifier
Penta X syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier
Penta X syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Penta X syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Penta X syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Existential restriction modifier
Penta X syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Penta X syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Penta X syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Penta X syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	1
Penta X syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier	1
Penta X syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Existential restriction modifier	1
Penta X syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Penta X syndrome	Associated morphology	Chromosomal morphology	true	Inferred relationship	Existential restriction modifier	2
Penta X syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

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Characteristic

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This concept is not in any reference sets