| spondylocamptodactylie-syndroom (aandoening) | | spondylocamptodactylie-syndroom | | Spondylocamptodactyly syndrome | | Rare syndrome with characteristics of camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. This syndrome has been described in five members from three generations of one family. Inheritance is thought to be autosomal dominant or autosomal recessive with pseudodominance. |
| | Id | 716231009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q77.8 | | Term | Overige gespecificeerde vormen van osteochondrodysplasie met groeistoornissen van pijpbeenderen en wervelkolom |
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| SNOMED CT to Orphanet simple map | 3180 |
| SNOMED CT to ICD-10 extended map | | Target | Q77.8 | | Rule | TRUE | | Advice | ALWAYS Q77.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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