| spondylometafysaire dysplasie type A4 (aandoening) | | spondylometafysaire dysplasie type A4 | | Spondylometaphyseal dysplasia A4 type | | A rare primary bone dysplasia disorder with characteristics of disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity. |
| | Id | 782912001 | | 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 | 168555 |
| 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 |
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