1172843003: Combined oxidative phosphorylation defect type 29 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Disorder of brain (disorder)\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29

\Disorder of head (disorder)\Disorder of brain (disorder)\...

\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29

\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29

\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 29
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
\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 29
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 29
\Disease\Degenerative disorder\Atrophy (disorder)\Combined oxidative phosphorylation defect type 29
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\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 29
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Cerebellar disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Degenerative brain disorder\Cerebellar degeneration\Hereditary cerebellar degeneration\Combined oxidative phosphorylation defect type 29
\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 29
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 29
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Combined oxidative phosphorylation defect type 29
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 29

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

Descriptions:

Id Description Lang Type Status Case? Module

4636174013 Combined oxidative phosphorylation defect type 29 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4636175014 COXPD29 - combined oxidative phosphorylation defect type 29 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4636176010 Combined oxidative phosphorylation defect type 29 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4636177018 A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5318321000052112 kombinerad brist på oxidativ fosforylering, typ 29 sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined oxidative phosphorylation defect type 29	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	Hereditary cerebellar degeneration	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 29	Occurrence	Congenital	true	Inferred relationship	Some	2
Combined oxidative phosphorylation defect type 29	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 29	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 29	Is a	Atrophy (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4636174013	Combined oxidative phosphorylation defect type 29	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636175014	COXPD29 - combined oxidative phosphorylation defect type 29	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636176010	Combined oxidative phosphorylation defect type 29 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636177018	A rare mitochondrial oxidative phosphorylation disorder with characteristics of microcephaly, global developmental delay, spastic-dystonic movement disorder, intractable seizures, optic atrophy, autonomic dysfunction and peripheral neuropathy. Serum lactate is increased, and muscle biopsy shows decreased activity of mitochondrial respiratory complexes I and III. Brain imaging reveals progressive cerebellar atrophy and delayed myelination.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5318321000052112	kombinerad brist på oxidativ fosforylering, typ 29	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)