Application Version: 4.0.6.10
Content Version: 2024.07.12
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Code System Concept
Code System Concept Code | 1222649004 |
Code System Concept Name | Auditory neuropathy, optic atrophy syndrome (disorder) |
Code System Preferred Concept Name | Auditory neuropathy, optic atrophy syndrome (disorder) |
Concept Status | Published |
Concept Status Date | 09/01/2024 |
Code System Name | SNOMED-CT |
Concept Details
Code System Code | PH_SNOMED-CT |
Code System OID | 2.16.840.1.113883.6.96 |
HL7 Table 0396 Code | SCT |
Superseded By Concept | |
SDO Concept Status | Active |
SDO Concept Status Date | 09/01/2022 |
SDO Date Created | 05/31/2022 |
SDO Date Revised | 05/31/2022 |
Description | A rare mitochondrial disease with characteristics of bilateral auditory neuropathy and optic atrophy. Patients present hearing and visual impairment in the first or second decade of life, while psychomotor development is normal. Bilateral retinitis pigmentosa has been reported in association. |
Sequence |
Extended Properties
No extended properties.
Concept Alternate Designations
SDO Designation ID | Concept Designation Description | Status | Designation Type | PHIN Preferred Term Flag | Code Flag |
---|---|---|---|---|---|
5048301019 | Auditory neuropathy, optic atrophy syndrome | Active | Synonym | false | false |
Parent Concepts
Parent Concepts
Parent/Child (Relationship Type)
Auditory system hereditary disorder (disorder)
{362991006
, SNOMED-CT
}
Autosomal recessive hereditary disorder (disorder)
{85995004
, SNOMED-CT
}
Decreased hearing (finding)
{103276001
, SNOMED-CT
}
Disorder of acoustic nerve (disorder)
{77949003
, SNOMED-CT
}
Hearing loss associated with syndrome (disorder)
{232333009
, SNOMED-CT
}
Hereditary degenerative disease of central nervous system (disorder)
{106018006
, SNOMED-CT
}
Inherited optic neuropathy (disorder)
{312942003
, SNOMED-CT
}
Mitochondrial cytopathy (disorder)
{240096000
, SNOMED-CT
}
Optic atrophy (disorder)
{76976005
, SNOMED-CT
}
|
Other Relationships
No other relationships present.
|
Child Concepts
No child concepts present.
|
- Page last reviewed:June 20, 2024
- Page last updated:June 20, 2024
- Content source: