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klaverbladschedel, asfyxiërende thoracale dysplasie syndroom (aandoening)
klaverbladschedel, asfyxiërende thoracale dysplasie syndroom
syndroom van Benallegue-Lacete
Cloverleaf skull, asphyxiating thoracic dysplasia syndrome
Benallegue Lacete syndrome
A rare syndromic craniosynostosis with characteristics of prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.
Id783181006
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van costa
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyPremature fusion
Finding sitestructuur van sutura coronalis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.5
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen
SNOMED CT to Orphanet simple map100978
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified