| cleidorhizomelic syndrome (aandoening) | | cleidorhizomelic syndrome | | syndroom van Wallis-Zieff-Goldblatt
| | Cleidorhizomelic syndrome | | Rhizomelic shortness with clavicular defect
Wallis Zieff Goldblatt syndrome
| | Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988. |
| | Id | 719471002 | | Status | Primitive |
| SNOMED CT to Orphanet simple map |
| 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 |
|
| SNOMED CT to ICD-10 extended map | | Target | Q77.8 | | Rule | TRUE | | Advice | ALWAYS Q77.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
