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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
Id1179299005
StatusPrimitive
Has interpretationDecreased
InterpretsRange of joint movement
Associated morphologyDysplasia
Finding siteSkeletal system structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyContracture
Finding siteStructure of joint region
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetQ77.2
RuleTRUE
AdviceALWAYS Q77.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified