Acromesomelic dysplasia syndrome
Autosomal recessive hereditary disorder
Developmental hereditary disorder
Hereditary disorder of musculoskeletal system
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Acromesomelic dysplasia Maroteaux type (disorder)
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.
acromesomele dysplasie Maroteaux-type
acromesomelische dysplasie type Maroteaux
Id718559000
StatusPrimitive
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ77.8
RuleTRUE
AdviceALWAYS Q77.8
CorrelationSNOMED CT source code to target map code correlation not specified