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ziekte van Hirschsprung met nagelhypoplasie en dysmorfie (aandoening)
ziekte van Hirschsprung met nagelhypoplasie en dysmorfie
syndroom van Al Gazali-Donnai-Muller
Hirschsprung disease with nail hypoplasia and dysmorphism
Al Gazali Donnai Muller syndrome
A fatal malformative disorder with characteristics of Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.
Id721223002
StatusPrimitive
Associated morphologydilatatie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypoplasie
Finding sitestructuur van nagel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypertrofie
Finding sitestructuur van colon
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ43.1
RuleTRUE
AdviceALWAYS Q43.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified