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syndroom van focomelie, ectrodactylie, doofheid en sinusaritmie (aandoening)
syndroom van focomelie, ectrodactylie, doofheid en sinusaritmie
syndroom van Stoll-Lévy-Francfort
Stoll-Lévy-Francfort-syndroom
Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome
Stoll Lévy Francfort syndrome
Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families.
Id715506001
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van oor
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitegedeelte van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationverlaagd
Interpretsgehoorfunctie
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2878
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2
CorrelationSNOMED CT source code to target map code correlation not specified