| syndroom van kleine gestalte, gevorderde botleeftijd en vroeg optredende artrose (aandoening) | | syndroom van kleine gestalte, gevorderde botleeftijd en vroeg optredende artrose | | syndroom van dwerggroei, gevorderde botleeftijd en vroeg optredende arthrosis deformans
| | Short stature, advanced bone age, early-onset osteoarthritis syndrome | | A rare primary bone dysplasia with characteristics of proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs and lordosis. Caused by heterozygous mutation in the ACAN gene on chromosome 15q26. |
| | Id | 1197586007 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 435804 |
| SNOMED CT to ICD-10 extended map | | Target | M89.89 | | Rule | TRUE | | Advice | ALWAYS M89.89 | 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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