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acrocefalopolydactylie (aandoening)
acrocefalopolydactylie
acrocefalopolydactyleuze dysplasie
syndroom van Elejalde
Elejalde-syndroom
Acrocephalopolydactyly
Acrocephalopolydactylous dysplasia
Elejalde syndrome
An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism, excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.
Id720417003
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified