205698004: Klinefelter-syndroom XX (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\XX males\Klinefelter syndrome, male with 46,XX karyotype (disorder)

\Anomaly of chromosome X\XX males\Klinefelter syndrome, male with 46,XX karyotype (disorder)

\Sex phenotype-karyotype dissociation syndrome\XX males\Klinefelter syndrome, male with 46,XX karyotype (disorder)

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

\Sex chromosome abnormality - male phenotype\XX males\Klinefelter syndrome, male with 46,XX karyotype (disorder)

\Anomaly of chromosome X\XX males\Klinefelter syndrome, male with 46,XX karyotype (disorder)

\Sex phenotype-karyotype dissociation syndrome\XX males\Klinefelter syndrome, male with 46,XX karyotype (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

4008377013 Klinefelter syndrome, male with 46,XX karyotype (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

4008378015 Klinefelter's syndrome, male with 46,XX karyotype en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4008379011 Klinefelter syndrome, male with 46,XX karyotype en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

370991000146118 syndroom van Klinefelter XX nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669031000146115 Klinefelter-syndroom XX nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10669041000146111 Klinefelter-syndroom XX (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 syndrome, male with 46,XX karyotype (disorder)	Is a	XX males	true	Inferred relationship	Some
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	Male structure	false	Inferred relationship	Some
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Associated morphology	Chromosomal morphology	true	Inferred relationship	Some	2
Klinefelter syndrome, male with 46,XX karyotype (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets