NIMA related kinase 9 lethal skeletal dysplasia (disorder) | | NEK9-related lethal skeletal dysplasia | | NIMA related kinase 9 lethal skeletal dysplasia Lethal skeletal dysplasia, fetal akinesia, contractures, thoracic dysplasia, pulmonary hypoplasia syndrome
| | A rare lethal primary bone dysplasia with characteristics of fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated. | | NEK9-gerelateerde letale skeletdysplasie | | 'NIMA-related kinase 9' letale skeletdysplasie syndroom van letale skeletdysplasie, foetale akinesie, contractuur, thoracale dysplasie en pulmonale hypoplasie
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| Id | 1179299005 | Status | Primitive |
ICD-10 complex map reference set | Target | Q77.2 | Rule | TRUE | Advice | ALWAYS Q77.2 | 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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