78317008: XXXY 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\Anomaly of chromosome X\XXXY syndrome

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

129969017 XXXY syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

819244017 XXXY syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships

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Active

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Characteristic

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Reference Sets

Description inactivation indicator reference set