Autosomal recessive muscular dystrophy with limb girdle distribution
Carbohydrate-deficient glycoprotein syndrome
Chronic metabolic disorder
Chronic nervous system disorder
Developmental delay
Inherited metabolic disorder of nervous system
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Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency (disorder)
Limb girdle muscular dystrophy due to POMK deficiency
Limb girdle muscular dystrophy due to protein O-mannose kinase deficiency
A form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness and borderline intelligence.
Id1234819007
StatusPrimitive
Clinical courseProgressive
OccurrenceCongenital
Finding siteStructure of nervous system
Associated morphologyDystrophy
Finding siteSkeletal muscle structure
OccurrenceInfancy
Pathological processPathological developmental process
ICD-10 complex map reference set
TargetG71.0
RuleTRUE
AdviceALWAYS G71.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified