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5335002: Phosphoenolpyruvate carboxykinase deficiency (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
9938016 Phosphoenolpyruvate carboxykinase (GTP) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
1231212010 Phosphoenolpyruvate carboxykinase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
1231213017 PEPCK - Phosphoenolpyruvate carboxykinase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
2974470014 Phosphoenolpyruvate carboxykinase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Phosphoenolpyruvate carboxykinase deficiency Is a Inborn error of pyruvate metabolism true Inferred relationship Existential restriction modifier
Phosphoenolpyruvate carboxykinase deficiency Is a Disorder of pyruvate metabolism and mitochondrial respiratory chain false Inferred relationship Existential restriction modifier
Phosphoenolpyruvate carboxykinase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Phosphoenolpyruvate carboxykinase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier
Phosphoenolpyruvate carboxykinase deficiency Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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