1187640000: Combined oxidative phosphorylation defect type 28 (disorder)

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

Status: current, Primitive. 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	Active	Case sensitive	SNOMED CT core
4675682011	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	en	Synonym	Active	Case insensitive	SNOMED CT core
4675685013	Combined oxidative phosphorylation defect type 28	en	Synonym	Active	Case insensitive	SNOMED CT core
4675686014	Combined oxidative phosphorylation defect type 28 (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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