1196950005: defect van gen voor structurele subeenheid van mitochondriale ademhalingsketencomplex IV (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\Cytochrome-c oxidase deficiency\Mitochondrial respiratory chain complex IV structural subunit 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\Cytochrome-c oxidase deficiency\Mitochondrial respiratory chain complex IV structural subunit 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\Cytochrome-c oxidase deficiency\Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder)
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Cytochrome-c oxidase deficiency\Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder)
• \Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Cytochrome-c oxidase deficiency\Mitochondrial respiratory chain complex IV structural subunit 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
4694057010	Mitochondrial respiratory chain complex IV structural subunit gene defect (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4694058017	Mitochondrial respiratory chain complex IV structural subunit gene defect	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
13606571000146118	defect van gen voor structurele subeenheid van mitochondriale ademhalingsketencomplex IV	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13606581000146116	defect van gen voor structurele subeenheid van mitochondriale ademhalingsketencomplex IV (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

Back to Start