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87694001: Pyruvate carboxylase deficiency (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
145395013 Pyruvate carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
145396014 PC deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
145397017 Ataxia with lactic acidosis II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
830221017 Pyruvate carboxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235265014 PC - Pyruvate carboxylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2164189011 Deficiency of pyruvic carboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2164190019 Deficiency of pyruvate carboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
145395013 Pyruvate carboxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
145395013 Pyruvate carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
145396014 PC deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
145397017 Ataxia with lactic acidosis II en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
830221017 Pyruvate carboxylase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
830221017 Pyruvate carboxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1235265014 PC - Pyruvate carboxylase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1235265014 PC - Pyruvate carboxylase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2164189011 Deficiency of pyruvic carboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2164189011 Deficiency of pyruvic carboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2164190019 Deficiency of pyruvate carboxylase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2164190019 Deficiency of pyruvate carboxylase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3424431001000110 Pyruvat-Carboxylase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
872891000172119 ataxie avec acidose lactique type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928881000172110 déficit en pyruvate carboxylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
872891000172119 ataxie avec acidose lactique type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
928881000172110 déficit en pyruvate carboxylase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3424431001000110 Pyruvat-Carboxylase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

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