1187640000: Combined oxidative phosphorylation defect type 28 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 28
• \Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 28

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4675681016	COXPD28 - combined oxidative phosphorylation defect type 28	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4675682011	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675685013	Combined oxidative phosphorylation defect type 28	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675686014	Combined oxidative phosphorylation defect type 28 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4675684012	A rare mitochondrial disease with characteristics of a variable clinical phenotype ranging from fetal hydrops and postnatal hypotonia, bradycardia and respiratory failure, resulting in death in the neonatal period, to infantile onset of episodes of acute cardiopulmonary failure associated with severe lactic acidosis and slowly progressive muscle weakness. Muscle biopsy shows reduced activity of mitochondrial complexes I, III, and IV.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10663371000172111	déficit combiné de la phosphorylation oxydative de type 28	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10663381000172114	COXPD28 - combined oxidative phosphorylation defect type 28	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7523761000172110	gecombineerd defect in OXPHOS type 28	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7523771000172118	gecombineerd defect in oxidatieve fosforylering type 28	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7523781000172115	ernstige neonatale cardiorespiratoire insufficiëntie door mitochondriaal methyleringsdefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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