205699007: Klinefelter-syndroom XXYY (aandoening)

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, XXYY (disorder)

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

\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)

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

9913761000146110 syndroom van Klinefelter XXYY nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669161000146113 Klinefelter-syndroom XXYY nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669171000146119 Klinefelter-syndroom XXYY (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	congenitale anomalie (afwijkende morfologie)	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	congenitale anomalie (afwijkende morfologie)	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

Type

Active

Source

Characteristic

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Reference Sets