autosomaal recessieve hereditaire aandoening
Genetic intellectual disability
hereditaire ontwikkelingsstoornis
stoornis van fosformetabolisme
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hyperfosfatasemie met verstandelijke beperking (aandoening)
hyperfosfatasemie met verstandelijke beperking
hyperfosfatasemie met mentale retardatie
hyperfosfatasemie met verstandelijke handicap
syndroom van Mabry
Hyperphosphatasemia with intellectual disability
Hyperphosphatasia with seizures and neurologic deficit
Hyperphosphatasemia with mental retardation
Mabry syndrome
Id33982008
StatusPrimitive
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map247262
SNOMED CT to ICD-10 extended map
TargetE83.3
RuleTRUE
AdviceALWAYS E83.3
CorrelationSNOMED CT source code to target map code correlation not specified
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified