205699007: Klinefelter's syndrome, XXYY (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 - male phenotype\Klinefelter syndrome\Klinefelter's syndrome, XXYY (disorder)

\Anomaly of chromosome X\Klinefelter syndrome\Klinefelter's syndrome, XXYY (disorder)

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

\Sex chromosome abnormality - male phenotype\Klinefelter syndrome\Klinefelter's syndrome, XXYY (disorder)

\Anomaly of chromosome X\Klinefelter syndrome\Klinefelter's syndrome, XXYY (disorder)

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

315463017 Klinefelter's syndrome, XXYY en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
591103018 Klinefelter's syndrome, XXYY (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2839318017 Klinefelter syndrome, XXYY en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Klinefelter's syndrome, XXYY (disorder)	Is a	Klinefelter syndrome	false	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Is a	Klinefelter's syndrome	false	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Is a	Klinefelter's syndrome - male with more than two X chromosomes	false	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXYY (disorder)	Is a	Klinefelter syndrome	true	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Klinefelter's syndrome, XXYY (disorder)	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	2
Klinefelter's syndrome, XXYY (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships

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Reference Sets

Description inactivation indicator reference set