205699007: Klinefelter's syndrome, XXYY (disorder)

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

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of sex chromosome\...

\Sex chromosome abnormality - male phenotype\A male with two or more X chromosomes.\Klinefelter's syndrome, XXYY

\Anomaly of chromosome X\A male with two or more X chromosomes.\Klinefelter's syndrome, XXYY

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

\Sex chromosome abnormality - male phenotype\A male with two or more X chromosomes.\Klinefelter's syndrome, XXYY

\Anomaly of chromosome X\A male with two or more X chromosomes.\Klinefelter's syndrome, XXYY

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

7215821000241119 syndrome de Klinefelter,XXYY fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets