| helicoïde peripapillaire chorioretinale degeneratie (aandoening) | | helicoïde peripapillaire chorioretinale degeneratie | | atrophia areata
| | Helicoid peripapillary chorioretinal degeneration | | Atrophia areata
Sveinsson chorioretinal atrophy
| | A rare autosomal dominant inherited chorioretinal degenerative disease presenting at birth or during infancy. The disease has characteristics of progressive bilateral retinal and choroidal atrophy which appears as lesions on the optic nerve and peripheral ocular fundus and leads to loss of central vision. Congenital anterior polar cataracts are sometimes associated with this disease. There is evidence this disease is caused by heterozygous mutation in the TEA domain family member-1 gene (TEAD1) on chromosome 11p15. |
| | Id | 724384008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | H31.2 | | Term | Hereditaire dystrofie van choroidea |
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| SNOMED CT to Orphanet simple map | 86813 |
| SNOMED CT to ICD-10 extended map | | Target | H31.2 | | Rule | TRUE | | Advice | ALWAYS H31.2 | 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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