| autosomaal dominante osteopetrose type 1 (aandoening) | | autosomaal dominante osteopetrose type 1 | | Autosomal dominant osteopetrosis type 1 | | A rare sclerosing bone disorder with characteristics of skeletal densification that predominantly involves the cranial vault. The disease typically has onset in late childhood or adolescence. Clinical signs include chronic bone pain and disorders of the cranial nerves (trigeminal neuralgia, facial palsy, hearing loss). The disease is due to a gain-of-function mutation in the LRP5 gene (Low density lipoprotein receptor-related protein 5; 11q12-q13) that results in increased bone formation. Transmission is autosomal dominant. |
| | Id | 1264041000 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 2783 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.2 | | Rule | TRUE | | Advice | ALWAYS Q78.2 | 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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