763209008: gecombineerd defect in oxidatieve fosforylering type 9 (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 9 (disorder)
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 9 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638170019	Combined oxidative phosphorylation defect type 9 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638171015	Combined oxidative phosphorylation defect type 9	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638175012	COXPD9 - combined oxidative phosphorylation defect type 9	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5915971000146113	gecombineerd defect in oxidatieve fosforylering type 9	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5915981000146110	gecombineerd defect in OXPHOS type 9	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5915991000146112	gecombineerd defect in oxidatieve fosforylering type 9 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7014311000146114	COXPD9	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3638174011	A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638179018	A rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterised by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnoea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V. Caused by compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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