1003847003: deficiëntie van pyruvaatdehydrogenasefosfatase (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 dehydrogenase complex deficiency\Pyruvate dehydrogenase phosphatase deficiency (disorder)

\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 dehydrogenase complex deficiency\Pyruvate dehydrogenase phosphatase deficiency (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Inborn error of pyruvate metabolism\Pyruvate dehydrogenase complex deficiency\Pyruvate dehydrogenase phosphatase deficiency (disorder)
\Metabolic disease\Disorder of acid-base balance\Acidosis\Metabolic acidosis\Metabolic acidosis, increased anion gap (IAG)\Metabolic acidosis, IAG, accumulation of organic acids\Lactic acidosis\Pyruvate dehydrogenase complex deficiency\Pyruvate dehydrogenase phosphatase deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4166811010 Pyruvate dehydrogenase phosphatase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4166812015 Pyruvate dehydrogenase phosphatase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12131611000146119 deficiëntie van pyruvaatdehydrogenasefosfatase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12131621000146112 deficiëntie van pyruvaatdehydrogenasefosfatase (aandoening) nl Fully specified name Active Entire term case insensitive (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 dehydrogenase phosphatase deficiency (disorder)	Is a	Pyruvate dehydrogenase complex deficiency	true	Inferred relationship	Some
Pyruvate dehydrogenase phosphatase deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets