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'NIMA-related kinase 9' letale skeletdysplasie (aandoening)
NEK9-gerelateerde letale skeletdysplasie
'NIMA-related kinase 9' letale skeletdysplasie
syndroom van letale skeletdysplasie, foetale akinesie, contractuur, thoracale dysplasie en pulmonale hypoplasie
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.
Id1179299005
StatusPrimitive
Has interpretationverlaagd
Interprets'range of motion' van gewricht
Associated morphologydysplasie
Finding sitestructuur van skeletstelsel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycontractuur
Finding sitestructuur van gewrichtsregio
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map464366
SNOMED CT to ICD-10 extended map
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