| syndroom van aniridie, ptosis, verstandelijke beperking en familiale obesitas (aandoening) | | syndroom van aniridie, ptosis, verstandelijke beperking en familiale obesitas | | Aniridia, ptosis, intellectual disability, familial obesity syndrome | | An extremely rare syndrome described in three members of a family (a mother and her two children) with the association of various ocular abnormalities (partial or complete aniridia, ptosis, pendular nystagmus, corneal pannus, persistent pupillary membrane, lenticular opacities, foveal hypoplasia and low visual acuity) with various systemic anomalies including intellectual disability and obesity in the two children and alopecia, cardiac abnormalities and frequent spontaneous abortion in the mother. There have been no further descriptions in the literature since 1986. |
| | Id | 720987001 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 1067 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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