| syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht (aandoening) DEPRECATED | | syndroom van osteoporose, macrocefalie, blindheid en hypermobiliteit van gewricht | | syndroom van Heide
| | Heide syndrome | | Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome
Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome
| | A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. |
| | Id | 716189005 | | 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 | 2787 |
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