| syndroom van grote gestalte, scoliose en macrodactylie van grote teen (aandoening) | | syndroom van grote gestalte, scoliose en macrodactylie van grote teen | | syndroom van grote gestalte, scoliose en macrodactylie van hallux
| | Tall stature, scoliosis, macrodactyly of great toe syndrome | | Tall stature, scoliosis, macrodactyly of hallux syndrome
| | A rare genetic overgrowth or tall stature syndrome with skeletal involvement and characteristics of early and proportional overgrowth, osteopenia, lumbar scoliosis, arachnodactyly of the hands and feet, macrodactyly of the hallux, coxa valga with epiphyseal dysplasia of the femoral capital epiphyses and susceptibility to slipped capital femoral epiphysis. There is evidence the disease is caused by heterozygous mutation in the NPR2 gene on chromosome 9p13. |
| | Id | 770788000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.3 | | Term | Congenitale gestoorde-ontwikkelingssyndromen met vroege versterkte groei |
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| SNOMED CT to Orphanet simple map | 329191 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.3 | | Rule | TRUE | | Advice | ALWAYS Q87.3 | 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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