| syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand (aandoening) | | syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en ontwikkelingsachterstand | | syndroom van congenitaal cataract, progressieve spierhypotonie, gehoorverlies en vertraging in ontwikkeling
| | Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome | | Congenital cataract, progressive muscular hypotonia, deafness, developmental delay syndrome
| | A rare genetic mitochondrial myopathy disorder with characteristics of congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity. Can be caused by mutations in the GFER gene. |
| | Id | 773398005 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | G71.3 | | Term | Mitochondriën-myopathie, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 330054 |
| SNOMED CT to ICD-10 extended map | | Target | G71.3 | | Rule | TRUE | | Advice | ALWAYS G71.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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