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43248007: Penta X syndrome (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\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

\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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Existential restriction modifier (core metadata concept)
Penta X syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Penta X syndrome	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Penta X syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Penta X syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Penta X syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Penta X syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Penta X syndrome	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Penta X syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Penta X syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Penta X syndrome	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Penta X syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Penta X syndrome	Associated morphology	Chromosomal morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Penta X syndrome	Finding site	Sex chromosome X (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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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
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
3411331001000111	Pentasomie X	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4530961000241117	pentasomie X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4530961000241117	pentasomie X	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3411331001000111	Pentasomie X	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module