| brachyolmie type 3 (aandoening) | | brachyolmie type 3 | | autosomaal dominante brachyolmie
| | Autosomal dominant brachyolmia | | Brachyolmia type 3
| | A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance. |
| | Id | 717264003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q76.4 | | Term | Overige congenitale misvormingen van wervelkolom, niet verband houdend met scoliose |
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| SNOMED CT to Orphanet simple map | 93304 |
| SNOMED CT to ICD-10 extended map | | Target | Q76.4 | | Rule | TRUE | | Advice | ALWAYS Q76.4 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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