| syndroom van progressieve arteriële occlusieve ziekte, hypertensie, hartdefect, botfragiliteit en brachysyndactylie (aandoening) | | syndroom van progressieve arteriële occlusieve ziekte, hypertensie, hartdefect, botfragiliteit en brachysyndactylie | | Grange-syndroom
syndroom van Grange
| | Grange syndrome | | Grange occlusive arterial syndrome
Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome
| | Grange syndrome has characteristics of stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. So far, the syndrome has been reported in six patients from three families. Congenital heart defects were also reported in some cases. The mode of transmission remains unclear, both autosomal recessive and autosomal dominant inheritance with decreased penetrance and parental gonadal mosaicism have been proposed. |
| | Id | 717824007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 79094 |
| 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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