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camptodactyliesyndroom Guadalajara-type 1 (aandoening)
camptodactyliesyndroom Guadalajara-type 1
Camptodactyly syndrome Guadalajara type 1
A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait.
Id720602007
StatusPrimitive
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1327
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