| olivopontocerebellaire atrofie gelijktijdig met perceptief gehoorverlies (aandoening) | | olivopontocerebellaire atrofie gelijktijdig met perceptief gehoorverlies | | MSA-c gelijktijdig met perceptief gehoorverlies
OPCA gelijktijdig met perceptief gehoorverlies
| | Olivopontocerebellar atrophy and deafness | | Olivopontocerebellar atrophy co-occurrent with sensorineural hearing loss
| | Olivopontocerebellar atrophy-deafness syndrome is characterized by infancy-onset olivopontocerebellar atrophy, sensorineural deafness and speech impairment. It has been described in less than 15 children. Most cases were sporadic, but autosomal recessive inheritance was suggested in three cases. |
| | Id | 715483009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G23.3 | | Term | Multipele systeem atrofie, cerebellair type [MSA-c] |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
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| SNOMED CT to Orphanet simple map | 2732 |
| SNOMED CT to ICD-10 extended map | | Target | Q04.8 | | Rule | TRUE | | Advice | ALWAYS Q04.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.5 | | Rule | TRUE | | Advice | ALWAYS H90.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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