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1217212009: Mitochondrial pyruvate carrier deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Apr 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5035156010 Mitochondrial pyruvate carrier deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
5035157018 Mitochondrial pyruvate carrier 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
Mitochondrial pyruvate carrier deficiency Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier
Mitochondrial pyruvate carrier deficiency Is a Inborn error of pyruvate metabolism true Inferred relationship Existential restriction modifier
Mitochondrial pyruvate carrier deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Mitochondrial pyruvate carrier deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Mitochondrial pyruvate carrier deficiency Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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