|||||
syndroom van aniridie en verstandelijke beperking (aandoening)
syndroom van aniridie en verstandelijke beperking
syndroom van aniridie en verstandelijke handicap
syndroom van aniridie en mentale retardatie
syndroom van Walker-Dyson
Aniridia and intellectual disability syndrome
An extremely rare autosomal dominant developmental defect of the eye described in several members of one family with characteristics of the association of moderate intellectual disability with aniridia, lens dislocation, optic nerve hypoplasia and cataracts. There have been no further descriptions in the literature since 1974.
Id720468000
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van iris
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ13.1
TermOntbreken van iris
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
SNOMED CT to Orphanet simple map1068
SNOMED CT to ICD-10 extended map
TargetQ13.1
RuleTRUE
AdviceALWAYS Q13.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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