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syndroom van kyfose, laterale atrofie van tong en myofibrillaire myopathie (aandoening)
syndroom van kyfose, laterale atrofie van tong en myofibrillaire myopathie
syndroom van kyfose, laterale tongatrofie en myofibrillaire myopathie
Kyphosis, lateral tongue atrophy, myofibrillar myopathy syndrome
A rare genetic skeletal muscle disease with characteristics of neonatal to childhood onset of slowly progressive muscle weakness and atrophy primarily affecting the lower limbs, joint contractures, kyphosis or lordosis of the spine, lateral tongue atrophy, and pes equinus. In addition progression to upper limb involvement, facial weakness, language impairment, intellectual disability, and behavioral abnormalities has been reported. Muscle biopsy shows myopathic changes with increased fiber size variation, internalized nuclei, fiber atrophy, as well as rod structures and core targetoid defects.
Id1172591008
StatusPrimitive
Clinical courseprogressief
Associated morphologyatrophia
Finding sitestructuur van laterale tongrand
SNOMED CT to Orphanet simple map496686
SNOMED CT to ICD-10 extended map
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified