Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007
SNOMED CT code
| SNOMED code | 1260133007 |
|---|---|
| name | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect |
| status | active |
| date introduced | 2022-12-31 |
| fully specified name(s) | Syndromic sensorineural deafness due to combined oxidative phosphorylation defect (disorder) |
| synonyms |
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| attributes - group2 | |
| Interprets | Hearing 47078008 |
| Has interpretation | Decreased 1250004 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Auditory structure 91159003 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Functional finding 118228005 Hearing finding 118230007 Decreased hearing 103276001 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of pyruvate metabolism and mitochondrial respiratory chain 237981000 Disorder of mitochondrial respiratory chain complexes 237986005 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Mitochondrial cytopathy 240096000 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007 SNOMED CT Concept 138875005 Clinical finding 404684003 Ear and auditory finding 118236001 Disorder of auditory system 362966006 Auditory system hereditary disorder 362991006 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Congenital hearing disorder 95827002 Congenital sensorineural hearing loss 700453005 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 1260133007 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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