205700008: Klinefelter's syndrome, XY/XXY mosaic (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, XY/XXY mosaic

\Anomaly of chromosome X\Klinefelter syndrome\Klinefelter's syndrome, XY/XXY mosaic

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

\Sex chromosome abnormality - male phenotype\Klinefelter syndrome\Klinefelter's syndrome, XY/XXY mosaic

\Anomaly of chromosome X\Klinefelter syndrome\Klinefelter's syndrome, XY/XXY mosaic

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

315464011 Klinefelter's syndrome, XY/XXY mosaic en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

591104012 Klinefelter's syndrome, XY/XXY mosaic (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2838080016 Klinefelter syndrome, XY/XXY mosaic en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5611471000172112 syndrome de Klinefelter XY/XXY fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4725421000172118 syndroom van Klinefelter mozaïekvorm XY/XXY nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4725431000172115 Klinefelter-syndroom mozaïekvorm XY/XXY nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

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Active

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Characteristic

Refinability

Group

This concept is not in any reference sets