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syndroom van cholestase met pigmentretinopathie en palatoschisis (aandoening)
syndroom van cholestase met pigmentretinopathie en palatoschisis
syndroom van galstuwing met pigmentretinopathie en gespleten gehemelte
Hardikar-syndroom
syndroom van Hardikar
Cholestasis with pigmentary retinopathy and cleft palate syndrome
Hardikar syndrome
A syndrome of multiple congenital malformations with an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension) and obstructive renal disease (ectopic ureteric insertion, obstruction, hydronephrosis). Gastrointestinal tract and cardiac involvement have also been reported. An overlap with Kabuki syndrome is debated.
Id720636001
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van lever
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map1415
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified