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syndroom van camptodactylie, hyperplasie van fibreus weefsel en skeletdysplasie (aandoening)
syndroom van camptodactylie, hyperplasie van fibreus weefsel en skeletdysplasie
camptodactylie van Goodman
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome
Goodman camptodactyly
An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.
Id720600004
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1321
SNOMED CT to ICD-10 extended map
TargetQ87.2
RuleTRUE
AdviceALWAYS Q87.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified