| metafysaire chondrodysplasie Kaitila-type (aandoening) | | metafysaire chondrodysplasie Kaitila-type | | Metaphyseal chondrodysplasia Kaitila type | | A rare multiple metaphyseal dysplasia disease with characteristics of disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982. |
| | Id | 770909004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 166038 |
| SNOMED CT to ICD-10 extended map | | Target | Q78.5 | | Rule | TRUE | | Advice | ALWAYS Q78.5 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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