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734990008: Primary hyperoxaluria type III (disorder)


Status: current, Primitive. Date: 31-Jan 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3512288016 Primary hyperoxaluria type III (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3512289012 Primary hyperoxaluria type 3 en Synonym Active Case insensitive SNOMED CT core
3512290015 Primary hyperoxaluria type III en Synonym Active Initial character case insensitive SNOMED CT core
3512292011 A disorder of glyoxylate metabolism that can be asymptomatic or have manifestation of oxalate nephrolithiasis. This disease has a less severe course that primary hyperoxaluria type 1 or type 2, and may be silent or limited to stone formation, sometimes even improving over time. While hyperoxaluria persists in primary hyperoxaluria type 3, nephrocalcinosis and chronic kidney failure are uncommon and systemic involvement has not been reported so far. Caused by mutations in the 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) gene located to 10q24.1. Transmission is autosomal recessive en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary hyperoxaluria type III Is a Primary hyperoxaluria true Inferred relationship Some
Primary hyperoxaluria type III Occurrence Congenital true Inferred relationship Some 1
Primary hyperoxaluria type III Finding site Kidney structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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