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syndroom van ankyloblefaron filiforme adnatum en anusatresie (aandoening)
syndroom van ankyloblefaron filiforme adnatum en anusatresie
syndroom van ankyloblepharon filiforme adnatum en anusatresie
Aughton-Hufnagle-syndroom
syndroom van ankyloblepharon filiforme adnatum en anus imperforatus
syndroom van Aughton-Hufnagle
Ankyloblepharon filiforme adnatum with imperforate anus syndrome
Aughton Hufnagle syndrome
An extremely rare developmental defect during embryogenesis malformation syndrome with characteristics of bands of extensile tissue connecting the margins of the upper and lower eyelids in association with anal atresia. Patients may additionally present cleft palate, hydrocephalus and meningomyelocele. There have been no further descriptions in the literature since 1993.
Id773770009
StatusPrimitive
Associated morphologyatresie
Finding sitestructuur van anus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyadhesie
Finding sitestructuur van vrije rand van palpebra
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map1074
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