| X-gebonden dominante chondrodysplasia punctata (aandoening) | | X-gebonden dominante chondrodysplasia punctata | | X-gebonden dominante dyschondroplasia punctata
| | Chondrodysplasia punctata, X-linked dominant type | | Conradi Hünermann Happle syndrome
Happle syndrome
Chondrodystrophia calcificans congenita
X-linked chondrodysplasia punctata type 2
| | A rare genodermatosis disease with great phenotypic variation and characterized most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. |
| | Id | 398958000 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 35173 |
| SNOMED CT to ICD-10 extended map | | Target | Q77.3 | | Rule | TRUE | | Advice | ALWAYS Q77.3 | 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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