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17901006: Primary hyperoxaluria (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
30247019 Primary hyperoxaluria en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
30250016 Primary oxalosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
745258015 Primary hyperoxaluria (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1698761000005116 Primær hyperoxaluri da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Primary hyperoxaluria Is a Hereditary disorder of the urinary system false Inferred relationship Some
Primary hyperoxaluria Is a Inborn error of metabolism true Inferred relationship Some
Primary hyperoxaluria Is a Metabolic renal disease (disorder) true Inferred relationship Some
Primary hyperoxaluria Is a Disorder of carbohydrate metabolism true Inferred relationship Some
Primary hyperoxaluria Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Primary hyperoxaluria Is a Enzymopathy true Inferred relationship Some
Primary hyperoxaluria Is a Congenital anomaly of trunk false Inferred relationship Some
Primary hyperoxaluria Finding site Kidney structure true Inferred relationship Some 2
Primary hyperoxaluria Occurrence Congenital true Inferred relationship Some 1
Primary hyperoxaluria Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Primary hyperoxaluria, type II Is a True Primary hyperoxaluria Inferred relationship Some
Primary hyperoxaluria, type I Is a True Primary hyperoxaluria Inferred relationship Some
[EDTA] Primary oxalosis associated with renal failure Is a False Primary hyperoxaluria Inferred relationship Some
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 Is a True Primary hyperoxaluria Inferred relationship Some

This concept is not in any reference sets

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