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syndroom van corticale blindheid, verstandelijke beperking en polydactylie (aandoening)
syndroom van corticale blindheid, verstandelijke beperking en polydactylie
syndroom van corticale blindheid, mentale retardatie en polydactylie
syndroom van corticale blindheid, verstandelijke handicap en polydactylie
Cortical blindness, intellectual disability, polydactyly syndrome
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.
Id732251003
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH47.6
TermAandoeningen van visuele cortex
TargetF79.9
TermNiet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen
TargetQ69.9
TermPolydactylie, niet gespecificeerd
SNOMED CT to Orphanet simple map1389
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified