||
syndroom van aplasie van fibula, tibiale campomelie en oligosyndactylie (aandoening)
syndroom van aplasie van fibula, tibiale campomelie en oligosyndactylie
FACTO-syndroom
aplasie van fibula, tibiale campomelie, oligosyndactylie syndroom
Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome
Hecht Scott syndrome
FATCO syndrome
A rare genetic congenital limb malformation syndrome with characteristics of unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligo-syndactyly involving the lateral rays. Upper limb oligo-syndactyly and cleft lip/palate may also be associated.
Id783156008
StatusPrimitive
Associated morphologyabnormaal korte lengte
Finding sitegehele extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.2
TermCongenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten
SNOMED CT to Orphanet simple map2492
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified