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syndroom van tetralogie van Fallot, verstandelijke beperking en groeiachterstand (aandoening)
syndroom van tetralogie van Fallot, verstandelijke beperking en groeiachterstand
syndroom van Bindewald-Ulmer-Müller
syndroom van tetralogie van Fallot, mentale retardatie en groeiachterstand
Fallot complex with intellectual disability and growth delay syndrome
Bindewald Ulmer Muller syndrome
A rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay. Dysmorphic features include large, protruding, abnormally modeled ears and broad nasal root. Microcephaly and syndactyly of second and third toes have also been recorded. All patients have severe intellectual deficiency. The condition is transmitted as an autosomal recessive trait.
Id723336008
StatusPrimitive
Associated morphologystenose
Finding sitestructuur van valva trunci pulmonalis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyhypertrofie
Finding siterechter ventrikel
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologygroeivertraging
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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