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22053006: Klinefelter-syndroom (aandoening)

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
342501000146115 syndroom van Klinefelter nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10669011000146110 Klinefelter-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10669021000146117 Klinefelter-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3037904019 A male with two or more X chromosomes. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
9384541000146112 Uitsluitend bij mannen voorkomend syndroom met een onvoldoende ontwikkeling en functie van de geslachtsklieren ten gevolge van een chromosoomafwijking. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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