| syndroom van camptodactylie, hyperplasie van fibreus weefsel en skeletdysplasie (aandoening) | | syndroom van camptodactylie, hyperplasie van fibreus weefsel en skeletdysplasie | | camptodactylie van Goodman
| | Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome | | Goodman camptodactyly
| | An extremely rare chondrodysplastic malformation syndrome with the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly and scoliosis. A mild facial dysmorphism including a broad nose and flaring nostrils and a mild intellectual disability were also noted. The syndrome has been described once in 3 siblings and is suspected to follow autosomal recessive transmission. There have been no further descriptions in the literature since 1972. |
| | Id | 720600004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1321 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.2 | | Rule | TRUE | | Advice | ALWAYS Q87.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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