275264009: Klinefelter's syndrome XXXXY (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\...

\Sex chromosome abnormality - male phenotype\Klinefelter syndrome\Klinefelter's syndrome XXXXY

\Anomaly of chromosome X\Klinefelter syndrome\Klinefelter's syndrome XXXXY

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

\Sex chromosome abnormality - male phenotype\Klinefelter syndrome\Klinefelter's syndrome XXXXY

\Anomaly of chromosome X\Klinefelter syndrome\Klinefelter's syndrome XXXXY

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

411224015 Klinefelter's syndrome XXXXY en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

668113010 Klinefelter's syndrome XXXXY (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2838991013 Klinefelter syndrome XXXXY 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 XXXXY	Is a	Klinefelter's syndrome - male with more than two X chromosomes	false	Inferred relationship	Some
Klinefelter's syndrome XXXXY	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Klinefelter's syndrome XXXXY	Occurrence	Congenital	false	Inferred relationship	Some
Klinefelter's syndrome XXXXY	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Klinefelter's syndrome XXXXY	Occurrence	Congenital	false	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome XXXXY	Is a	Klinefelter syndrome	true	Inferred relationship	Some
Klinefelter's syndrome XXXXY	Occurrence	Congenital	true	Inferred relationship	Some	2
Klinefelter's syndrome XXXXY	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	2
Klinefelter's syndrome XXXXY	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets