1172844009: Combined oxidative phosphorylation defect type 27 (disorder)

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

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27
\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\Combined oxidative phosphorylation defect type 27

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

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27

\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 27
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
\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 27
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Combined oxidative phosphorylation defect type 27
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 27
\Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
\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 27
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
\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 27
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Combined oxidative phosphorylation defect type 27
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27
\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\Combined oxidative phosphorylation defect type 27
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27
\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 27
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
\Disease\Metabolic disease\Mitochondrial cytopathy (disorder)\Combined oxidative phosphorylation defect type 27
\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 27
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 27
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental and epileptic encephalopathy\Combined oxidative phosphorylation defect type 27
\Disease\Developmental disorder\Developmental hereditary disorder\Combined oxidative phosphorylation defect type 27

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

4636178011 Combined oxidative phosphorylation defect type 27 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4636179015 Combined oxidative phosphorylation defect type 27 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4636180017 COXPD27 - combined oxidative phosphorylation defect type 27 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4636181018 A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

10674101000172111 déficit combiné de la phosphorylation oxydative de type 27 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

10674111000172114 COXPD27 - combined oxidative phosphorylation defect type 27 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7204991000172118 gecombineerd defect in OXPHOS type 27 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7205001000172110 gecombineerd defect in oxidatieve fosforylering type 27 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined oxidative phosphorylation defect type 27	Is a	Hereditary degenerative disease of central nervous system	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	Mitochondrial cytopathy (disorder)	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Occurrence	Congenital	true	Inferred relationship	Some	2
Combined oxidative phosphorylation defect type 27	Finding site	Brain structure	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 27	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Combined oxidative phosphorylation defect type 27	Is a	Developmental and epileptic encephalopathy	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Combined oxidative phosphorylation defect type 27	Finding site	Brain structure	true	Inferred relationship	Some	3
Combined oxidative phosphorylation defect type 27	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3

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
4636178011	Combined oxidative phosphorylation defect type 27	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636179015	Combined oxidative phosphorylation defect type 27 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4636180017	COXPD27 - combined oxidative phosphorylation defect type 27	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4636181018	A rare mitochondrial oxidative phosphorylation disorder with a variable clinical phenotype. Manifestations include infantile onset of epileptic encephalopathy, hypotonia, global developmental delay, failure to thrive, complex movement disorder and liver involvement along with childhood onset of severe myoclonus epilepsy, cognitive decline, progressive hearing and visual impairment and progressive tetraparesis. Serum lactate may be increased and brain imaging shows variable atrophy and white matter abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
10674101000172111	déficit combiné de la phosphorylation oxydative de type 27	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10674111000172114	COXPD27 - combined oxidative phosphorylation defect type 27	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7204991000172118	gecombineerd defect in OXPHOS type 27	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7205001000172110	gecombineerd defect in oxidatieve fosforylering type 27	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)