| syndroom van congenitaal cataract, gehoorverlies en ernstige ontwikkelingsachterstand (aandoening) | | syndroom van congenitaal cataract, gehoorverlies en ernstige ontwikkelingsachterstand | | syndroom van congenitaal cataract, gehoorverlies en ernstige vertraging in ontwikkeling
letale neurodegeneratieve stoornis door kopertransportdefect
| | Congenital cataract, hearing loss, severe developmental delay syndrome | | Lethal neurodegenerative disorder due to copper transport defect
Congenital cataract, deafness, severe developmental delay syndrome
| | A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. |
| | Id | 773648002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q12.0 | | Term | Congenitaal cataract |
| Target | H90.5 | | Term | Gehoorverlies door perceptiestoornis, niet gespecificeerd |
| Target | F89 | | Term | Niet gespecificeerde stoornis van de psychische ontwikkeling |
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| SNOMED CT to Orphanet simple map | 300313 |
| SNOMED CT to ICD-10 extended map | | Target | Q12.0 | | Rule | TRUE | | Advice | ALWAYS Q12.0 | | 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 |
| Target | F89 | | Rule | TRUE | | Advice | ALWAYS F89 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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