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734990008: Primary hyperoxaluria type III (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core
3512289012 Primary hyperoxaluria type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3512290015 Primary hyperoxaluria type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
3512288016 Primary hyperoxaluria type III (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3512289012 Primary hyperoxaluria type 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3512290015 Primary hyperoxaluria type III en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
976071000172118 hyperoxalurie primitive type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
976071000172118 hyperoxalurie primitive type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary hyperoxaluria type III (disorder) Is a Primary hyperoxaluria (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Primary hyperoxaluria type III (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Primary hyperoxaluria type III (disorder) Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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