205698004: Klinefelter syndrome, male with 46,XX karyotype (disorder)

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

\Disorder of foetus and/or newborn\Congenital disease\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

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

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

\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

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

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

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

315462010 Klinefelter's syndrome - male with 46 XX karyotype en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

591102011 Klinefelter's syndrome - male with 46 XX karyotype (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

591102011 Klinefelter's syndrome - male with 46 XX karyotype (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2839493014 Klinefelter syndrome - male with 46 XX karyotype en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Klinefelter syndrome, male with 46,XX karyotype	Is a	XX males	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Klinefelter syndrome, male with 46,XX karyotype	Finding site	Male structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Klinefelter syndrome, male with 46,XX karyotype	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Klinefelter syndrome, male with 46,XX karyotype	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Klinefelter syndrome, male with 46,XX karyotype	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Klinefelter syndrome, male with 46,XX karyotype	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Klinefelter syndrome, male with 46,XX karyotype	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Klinefelter syndrome, male with 46,XX karyotype	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Klinefelter syndrome, male with 46,XX karyotype	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Klinefelter syndrome, male with 46,XX karyotype	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Klinefelter syndrome, male with 46,XX karyotype	Finding site	Sex chromosome X (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Klinefelter syndrome, male with 46,XX karyotype	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Klinefelter syndrome, male with 46,XX karyotype	Associated morphology	Chromosomal morphology (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Klinefelter syndrome, male with 46,XX karyotype	Finding site	Sex chromosome X (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

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This concept is not in any reference sets