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1260133007: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Dec 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5159299011 Syndromic sensorineural hearing loss due to COXPD (combined oxidative phosphorylation defect) en Synonym Active Only initial character case insensitive SNOMED CT core module
5159300015 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect en Synonym Active Entire term case insensitive SNOMED CT core module
5159301016 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
5159302011 Syndromic sensorineural deafness due to COXPD (combined oxidative phosphorylation defect) en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a Decreased hearing true Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a Disorder of mitochondrial respiratory chain complexes true Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a Mitochondrial cytopathy true Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a Auditory system hereditary disorder true Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a Congenital sensorineural hearing loss true Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Interprets Hearing, function true Inferred relationship Existential restriction modifier 2
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Has interpretation Decreased true Inferred relationship Existential restriction modifier 2
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect Finding site Structure of auditory system 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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