|||||
aplasie van fibula gelijktijdig met complexe brachydactylie (aandoening)
aplasie van fibula gelijktijdig met complexe brachydactylie
syndroom van Du Pan
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.
Id715474004
StatusPrimitive
Associated morphologyaplasia
Finding sitebotstructuur van fibula
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ72.8
TermOverige gespecificeerde onderontwikkeling van onderste extremiteit(en)
SNOMED CT to Orphanet simple map2639
SNOMED CT to ICD-10 extended map
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