1196871004: defect van gen voor assemblage van mitochondriale ademhalingsketencomplex III (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\Ubiquinone dehydrogenase deficiency (disorder)\Mitochondrial respiratory chain complex III assembly gene defect

\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\Ubiquinone dehydrogenase deficiency (disorder)\Mitochondrial respiratory chain complex III assembly gene defect

\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\Ubiquinone dehydrogenase deficiency (disorder)\Mitochondrial respiratory chain complex III assembly gene defect
\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Ubiquinone dehydrogenase deficiency (disorder)\Mitochondrial respiratory chain complex III assembly gene defect

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

4693713010 Mitochondrial respiratory chain complex III assembly gene defect en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4693714016 Mitochondrial respiratory chain complex III assembly gene defect (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

13607161000146117 defect van gen voor assemblage van mitochondriale ademhalingsketencomplex III nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13607171000146111 defect van gen voor assemblage van mitochondriale ademhalingsketencomplex III (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

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Mitochondrial respiratory chain complex III assembly gene defect	Is a	Ubiquinone dehydrogenase deficiency (disorder)	true	Inferred relationship	Some
Mitochondrial respiratory chain complex III assembly gene defect	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets