22053006: Klinefelter 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\...

\Sex chromosome abnormality - male phenotype\Klinefelter syndrome

\Anomaly of chromosome X\Klinefelter syndrome

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

\Sex chromosome abnormality - male phenotype\Klinefelter syndrome

\Anomaly of chromosome X\Klinefelter syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

37000018 Klinefelter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
37001019 XXY syndrome en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
481208011 Klinefelter's syndrome karyotype 47 XXY en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
481209015 Klinefelter's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
481210013 XXY Klinefelter's syndrome en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
751418017 Klinefelter syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3037904019 A male with two or more X chromosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Klinefelter syndrome	Is a	Anomaly of chromosome X	false	Inferred relationship	Some
Klinefelter syndrome	Is a	Sex chromosome abnormality - male phenotype	false	Inferred relationship	Some
Klinefelter syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Klinefelter syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Klinefelter syndrome	Finding site	Sex chromosome X	false	Inferred relationship	Some
Klinefelter syndrome	Is a	Sex chromosome abnormality - male phenotype	true	Inferred relationship	Some
Klinefelter syndrome	Is a	Anomaly of chromosome X	true	Inferred relationship	Some
Klinefelter syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Klinefelter syndrome	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	1
Klinefelter syndrome	Finding site	Sex chromosome X	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Klinefelter's syndrome - male with more than two X chromosomes	Is a	False	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Is a	False	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome, XY/XXY mosaic	Is a	False	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome NOS	Is a	False	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Is a	True	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome XXXY	Is a	True	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome XXXXY	Is a	True	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome, XXYY (disorder)	Is a	True	Klinefelter syndrome	Inferred relationship	Some
Klinefelter's syndrome, XY/XXY mosaic	Is a	True	Klinefelter syndrome	Inferred relationship	Some

This concept is not in any reference sets