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22053006: Klinefelter syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
37000018 Klinefelter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
481209015 Klinefelter's syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
751418017 Klinefelter syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3037904019 A male with two or more X chromosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
818831000241115 syndrome de Klinefelter fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Klinefelter syndrome Is a Anomaly of chromosome X false Inferred relationship Some
Klinefelter syndrome Is a Sex chromosome abnormality - male phenotype false Inferred relationship Some
Klinefelter syndrome Occurrence Congenital false Inferred relationship Some
Klinefelter syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
Klinefelter syndrome Finding site Sex chromosome X false Inferred relationship Some
Klinefelter syndrome Is a Sex chromosome abnormality - male phenotype true Inferred relationship Some
Klinefelter syndrome Is a Anomaly of chromosome X true Inferred relationship Some
Klinefelter syndrome Occurrence Congenital true Inferred relationship Some 1
Klinefelter syndrome Associated morphology Alteration of chromosome structure true Inferred relationship Some 1
Klinefelter syndrome Finding site Sex chromosome X true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Klinefelter's syndrome - male with more than two X chromosomes Is a False Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome, XXYY (disorder) Is a False Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome, XY/XXY mosaic Is a False Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome NOS Is a False Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome, XXY (disorder) Is a True Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome XXXY Is a True Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome XXXXY Is a True Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome, XXYY (disorder) Is a True Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome, XY/XXY mosaic Is a True Klinefelter syndrome Inferred relationship Some

This concept is not in any reference sets

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