87694001: pyruvaatcarboxylasedeficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\...

\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate carboxylase deficiency

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pyruvate carboxylase deficiency

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate carboxylase deficiency

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate carboxylase deficiency
\Metabolic disease\Enzymopathy\Pyruvate carboxylase deficiency

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

6068441000146110 pyruvaatcarboxylasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6068451000146113 pyruvaatcarboxylasedeficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6108121000146117 deficiëntie van pyruvaatcarboxylase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7516441000146113 ataxie met lactaatacidose type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7516451000146111 ataxie met melkzuuracidose type 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13083161000146119 PC-deficiëntie; erfelijke stofwisselingsziekte, die valt onder de mitochondriale ziekten. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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	Some
Pyruvate carboxylase deficiency	Is a	Lactic acidosis	false	Inferred relationship	Some
Pyruvate carboxylase deficiency	Is a	Disorder of pyruvate metabolism and mitochondrial respiratory chain	false	Inferred relationship	Some
Pyruvate carboxylase deficiency	Is a	Inborn error of pyruvate metabolism	true	Inferred relationship	Some
Pyruvate carboxylase deficiency	Is a	Enzymopathy	true	Inferred relationship	Some
Pyruvate carboxylase deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Pyruvate carboxylase deficiency	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some
Pyruvate carboxylase deficiency	Occurrence	Congenital	true	Inferred relationship	Some	1
Pyruvate carboxylase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets