405769009: Klinefelter's syndrome, XXY (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, XXY (disorder)

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

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

\Sex chromosome abnormality - male phenotype\Klinefelter syndrome\Klinefelter's syndrome, XXY (disorder)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2149599019 Klinefelter's syndrome, XXY (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

2157545011 Klinefelter's syndrome, XXY en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2163148019 XXY syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2163150010 Klinefelter's syndrome karyotype 47 XXY en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2163151014 XXY Klinefelter's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

2838565019 Klinefelter syndrome, XXY en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

7739871000172113 syndrome XXY fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7739881000172111 syndrome de Klinefelter XXY fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5095781000172113 syndroom van Klinefelter XXY nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5095791000172111 Klinefelter-syndroom 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, XXY (disorder)	Is a	Klinefelter's syndrome	false	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Is a	Klinefelter's syndrome - male with more than two X chromosomes	false	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Finding site	Sex chromosome X	false	Inferred relationship	Some	1
Klinefelter's syndrome, XXY (disorder)	Is a	Klinefelter syndrome	true	Inferred relationship	Some
Klinefelter's syndrome, XXY (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Klinefelter's syndrome, XXY (disorder)	Associated morphology	Alteration of chromosome structure	true	Inferred relationship	Some	2
Klinefelter's syndrome, XXY (disorder)	Finding site	Sex chromosome X	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Belgian subset for medical problems in patient health records