1196873001: defect van gen voor assemblage van mitochondriale ademhalingsketencomplex II (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\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Succinate-coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex II assembly gene defect (disorder)

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Succinate-coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex II assembly gene defect (disorder)

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Succinate-coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex II assembly gene defect (disorder)
\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Succinate-coenzyme Q reductase deficiency\Mitochondrial respiratory chain complex II assembly gene defect (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4693717011 Mitochondrial respiratory chain complex II assembly gene defect (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4693718018 Mitochondrial respiratory chain complex II assembly gene defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13605441000146117 defect van gen voor assemblage van mitochondriale ademhalingsketencomplex II (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13605451000146119 defect van gen voor assemblage van mitochondriale ademhalingsketencomplex II nl Synonym (core metadata concept) Active Only initial character 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
Mitochondrial respiratory chain complex II assembly gene defect (disorder)	Is a	Succinate-coenzyme Q reductase deficiency	true	Inferred relationship	Some
Mitochondrial respiratory chain complex II assembly gene defect (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

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This concept is not in any reference sets