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Aplasia of fibula co-occurrent with complex brachydactyly (disorder)
Fibular aplasia and complex brachydactyly
Du Pan syndrome
Aplasia of fibula co-occurrent with complex brachydactyly
Severe reduction or absence of the fibula and complex brachydactyly. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene.
aplasie van fibula gelijktijdig met complexe brachydactylie
syndroom van Du Pan
Id715474004
StatusPrimitive
Associated morphologyAplasia
Finding siteBone structure of fibula
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ72.8
RuleTRUE
AdviceALWAYS Q72.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified