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cranio-osteoartropathie (aandoening)
cranio-osteoartropathie
ziekte van Currarino
syndroom van Reginato-Schiapachasse
Cranioosteoarthropathy
Currarino disease
Currarino idiopathic osteoarthropathy
Reginato Schiapachasse syndrome
Cranio-osteoarthropathy
A form of primary hypertrophic osteoarthropathy with characteristics of delayed closure of the cranial sutures and fontanelles, digital clubbing, arthropathy, and periostosis. To date, about 30 cases have been reported. May also be associated with congenital heart disease. It is caused by mutations in the HPGD gene (4q33-q34) and is inherited as an autosomal recessive trait.
Id720753002
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van cranium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationboven referentiebereik
Interpretsbotdensitometrie
SNOMED CT to Orphanet simple map1525
SNOMED CT to ICD-10 extended map
TargetM89.48
RuleTRUE
AdviceALWAYS M89.48 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified