| autosomaal dominant syndroom van myopie, midfaciale retrusie, perceptief gehoorverlies en rizomele dysplasie (aandoening) | | autosomaal dominant syndroom van myopie, midfaciale retrusie, perceptief gehoorverlies en rizomele dysplasie | | Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome | | Autosomal dominant myopia, midfacial retrusion, sensorineural deafness, rhizomelic dysplasia syndrome
| | A rare primary bone dysplasia with characteristics of micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapula, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion and cleft palate. |
| | Id | 1229999001 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 440354 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.5 | | Rule | TRUE | | Advice | ALWAYS Q87.5 | 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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