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syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte (aandoening)
syndroom van infantiele spasmen, motorische retardatie, progressieve hersenatrofie en basale ganglia-ziekte
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome
A rare, genetic disorder of thiamine metabolism and transport characterized by infantile spasms progressing to symptomatic generalized or partial seizures, severe global developmental delay, progressive brain atrophy, and bilateral thalamic and basal ganglia lesions.
Id782886007
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map263410
SNOMED CT to ICD-10 extended map
TargetE79.8
RuleTRUE
AdviceALWAYS E79.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified