763211004: Combined oxidative phosphorylation defect type 21 (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 21
• \Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 21

Status: current, Primitive. Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3638176013	COXPD21 - combined oxidative phosphorylation defect type 21	en	Synonym	Active	Case sensitive	SNOMED CT core
3638177016	Combined oxidative phosphorylation defect type 21	en	Synonym	Active	Case insensitive	SNOMED CT core
3638178014	Combined oxidative phosphorylation defect type 21 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3638180015	A rare mitochondrial disease characterized by axial hypotonia with limb hypertonia, developmental delay, hyperlactatemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	en	Definition	Active	Case sensitive	SNOMED CT core
3638181016	A rare mitochondrial disease characterised by axial hypotonia with limb hypertonia, developmental delay, hyperlactataemia, central nervous system anomalies visible on magnetic resonance imaging (e.g. corpus callosum hypoplasia, lesions of the globus pallidus) and multiple deficiencies of the mitochondrial respiratory chain complexes in muscle tissue, but not in fibroblasts or liver.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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