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syndroom van polysyndactylie en hartmalformatie (aandoening)
syndroom van polysyndactylie en hartmalformatie
syndroom van Bonneau
Polysyndactyly and cardiac malformation syndrome
Bonneau syndrome
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.
Id724066002
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hart
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2934
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified