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acromesomele dysplasie Maroteaux-type (aandoening)
acromesomele dysplasie Maroteaux-type
acromesomelische dysplasie type Maroteaux
Acromesomelic dysplasia Maroteaux type
An autosomal recessively inherited form of acromesomelic dysplasia with characteristics of severe dwarfism (adult height less than 120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening) and with normal facial appearance and intelligence.
Id718559000
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map40
SNOMED CT to ICD-10 extended map
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified