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autosomaal recessieve 'omodysplasia' (aandoening)
autosomaal recessieve 'omodysplasia'
Autosomal recessive omodysplasia
Micromelic dysplasia, dislocation of radius syndrome
Omodysplasia 1
An autosomal recessive generalized form of omodysplasia, a rare skeletal dysplasia, with characteristics of severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs.
Id725166005
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur van extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationonder referentiebereik
InterpretsLimb length
SNOMED CT to Orphanet simple map93329
SNOMED CT to ICD-10 extended map
TargetQ78.8
RuleTRUE
AdviceALWAYS Q78.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified