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22053006: Klinefelter syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
37000018 Klinefelter syndrome en Synonym Active Case sensitive SNOMED CT core
481209015 Klinefelter's syndrome en Synonym Active Case sensitive SNOMED CT core
751418017 Klinefelter syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3037904019 A male with two or more X chromosomes. en Definition Active Case sensitive SNOMED CT core


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 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
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

Inbound Relationships Type Active Source Characteristic Refinability Group
Klinefelter's syndrome, XXYY 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 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 Is a True Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome, XY/XXY mosaic Is a True Klinefelter syndrome Inferred relationship Some
Klinefelter's syndrome Is a False Klinefelter syndrome Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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