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87694001: Pyruvate carboxylase 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
145395013 Pyruvate carboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
145396014 PC deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
145397017 Ataxia with lactic acidosis II en Synonym Active Only initial character case insensitive SNOMED CT core module
830221017 Pyruvate carboxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
1235265014 PC - Pyruvate carboxylase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
2164189011 Deficiency of pyruvic carboxylase en Synonym Active Entire term case insensitive SNOMED CT core module
2164190019 Deficiency of pyruvate carboxylase en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pyruvate carboxylase deficiency Is a Inherited metabolic disorder of nervous system false Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Is a Lactic acidosis false Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Is a Disorder of pyruvate metabolism and mitochondrial respiratory chain false Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Is a Inborn error of pyruvate metabolism true Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Finding site Structure of nervous system false Inferred relationship Existential restriction modifier
Pyruvate carboxylase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Pyruvate carboxylase deficiency Finding site Body system structure false 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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