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King-Denborough-syndroom (aandoening)
King-Denborough-syndroom
syndroom van King-Denborough
syndroom van Koussef-Nichols
King Denborough syndrome
Koussef Nichols syndrome
A rare genetic non-dystrophic myopathy with characteristics of the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and myopathic facies (with or without creatine kinase elevations), skeletal abnormalities (short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.
Id764957003
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetG71.2
TermCongenitale myopathie├źn
SNOMED CT to Orphanet simple map99741
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified