| autosomaal recessieve brachyolmie (aandoening) | | autosomaal recessieve brachyolmie | | Autosomal recessive brachyolmia | | Brachyolmia Hobaek/Toledo type
| | Brachyolmia recessive type is a form of brachyolmia with characteristics of short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur. Mental status and facies are reported to be normal. Some patients are reported to have peripheral punctuate opacities in the cornea found on slit lamp examination (formerly Toledo type). A number of different mutations in the PAPSS2 gene (10q23.2-q23.3) have been reported in affected patients. PAPPS2 encodes PAPS (3'-phosphoadenosine 5'-phosphosulfate) synthase 2. Observed to follow an autosomal recessive pattern of inheritance. |
| | Id | 783789002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 448242 |
| SNOMED CT to ICD-10 extended map | | Target | Q76.3 | | Rule | TRUE | | Advice | ALWAYS Q76.3 | 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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