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autosomaal recessieve amelie (aandoening)
autosomaal recessieve amelie
Autosomal recessive amelia
Syndrome with characteristics of absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three fetuses born to non-consanguineous parents.
Id726735000
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele rechter bovenste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegehele linker bovenste extremiteit
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ73.0
RuleTRUE
AdviceALWAYS Q73.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified