| syndroom van foveale hypoplasie, decussatiedefect van nervus opticus en congenitale afwijking van voorste oogsegment (aandoening) | | syndroom van foveale hypoplasie, decussatiedefect van nervus opticus en congenitale afwijking van voorste oogsegment | | FHONDA-syndroom
| | Foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis syndrome | | FHONDA syndrome
FHONDA (foveal hypoplasia, optic nerve decussation defect, anterior segment dysgenesis) syndrome
| | A rare genetic eye disease with characteristics of foveal hypoplasia, optic nerve misrouting with an increased number of axons decussating at the optic chiasm and innervating the contralateral cortex, and posterior embryotoxon or Axenfeld anomaly (indicating anterior segment dysgenesis), in the absence of albinism. Patients present congenital nystagmus, decreased visual acuity, refractive errors and occasionally strabismus. Microphthalmia and retinochoroidal coloboma may also be associated. There is the disease is caused by homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23. |
| | Id | 782754006 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q15.8 | | Term | Overige gespecificeerde congenitale misvormingen van oog |
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| SNOMED CT to Orphanet simple map | 397618 |
| SNOMED CT to ICD-10 extended map | | Target | Q15.8 | | Rule | TRUE | | Advice | ALWAYS Q15.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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