1173035001: Combined oxidative phosphorylation defect type 25 (disorder)

SNOMED CT Concept\Clinical finding\...

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25

\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\Deficiency in enzyme complexes of mitochondrial respiratory chain\Combined oxidative phosphorylation defect type 25
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25
\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 25
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Combined oxidative phosphorylation defect type 25
\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 25
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Combined oxidative phosphorylation defect type 25
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Combined oxidative phosphorylation defect type 25
\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 25
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Combined oxidative phosphorylation defect type 25
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25
\Disease\Metabolic disease\Mitochondrial cytopathy\Combined oxidative phosphorylation defect type 25
\Disease\Metabolic disease\Enzymopathy\Deficiency in enzyme complexes of mitochondrial respiratory chain\Combined oxidative phosphorylation defect type 25
\Disease\Congenital disease\Inborn error of metabolism\Disorder of pyruvate metabolism and mitochondrial respiratory chain\Disorder of mitochondrial respiratory chain complexes\Deficiency in enzyme complexes of mitochondrial respiratory chain\Combined oxidative phosphorylation defect type 25
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Combined oxidative phosphorylation defect type 25

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

4637162019 Combined oxidative phosphorylation defect type 25 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4637163012 Combined oxidative phosphorylation defect type 25 en Synonym Active Entire term case insensitive SNOMED CT core module

4637164018 COXPD25 - combined oxidative phosphorylation defect type 25 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 25	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 25	Is a	Deficiency in enzyme complexes of mitochondrial respiratory chain	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 25	Is a	Mitochondrial cytopathy	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 25	Is a	Auditory system hereditary disorder	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 25	Is a	Sensorineural hearing loss	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 25	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Combined oxidative phosphorylation defect type 25	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Combined oxidative phosphorylation defect type 25	Finding site	Structure of nervous system	true	Inferred relationship	Existential restriction modifier	3
Combined oxidative phosphorylation defect type 25	Finding site	Structure of auditory system	true	Inferred relationship	Existential restriction modifier	4
Combined oxidative phosphorylation defect type 25	Interprets	Hearing, function	true	Inferred relationship	Existential restriction modifier	1
Combined oxidative phosphorylation defect type 25	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	1

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
4637162019	Combined oxidative phosphorylation defect type 25 (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4637163012	Combined oxidative phosphorylation defect type 25	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4637164018	COXPD25 - combined oxidative phosphorylation defect type 25	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module