1172841001: Combined oxidative phosphorylation defect type 30 (disorder)

SNOMED CT Concept\Clinical finding\...

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Combined oxidative phosphorylation defect type 30

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined oxidative phosphorylation defect type 30

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Combined oxidative phosphorylation defect type 30

\Disorder of skeletal muscle\Combined oxidative phosphorylation defect type 30

\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\Combined oxidative phosphorylation defect type 30
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 30
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 30
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined oxidative phosphorylation defect type 30
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 30
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 30
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Combined oxidative phosphorylation defect type 30
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 30
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Combined oxidative phosphorylation defect type 30
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined oxidative phosphorylation defect type 30
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined oxidative phosphorylation defect type 30
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 30
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 30
\Disease\Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 30
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 30
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 30
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined oxidative phosphorylation defect type 30

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4636164010 Combined oxidative phosphorylation defect type 30 en Synonym Active Entire term case insensitive SNOMED CT core module

4636165011 Combined oxidative phosphorylation defect type 30 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4636166012 COXPD30 - combined oxidative phosphorylation defect type 30 en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined oxidative phosphorylation defect type 30	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 30	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 30	Is a	Mitochondrial cytopathy	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 30	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 30	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Combined oxidative phosphorylation defect type 30	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	2
Combined oxidative phosphorylation defect type 30	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 30	Is a	Disorder of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 30	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4636164010	Combined oxidative phosphorylation defect type 30	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4636165011	Combined oxidative phosphorylation defect type 30 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4636166012	COXPD30 - combined oxidative phosphorylation defect type 30	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module