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syndroom van amaurose en hypertrichose (aandoening)
syndroom van amaurose en hypertrichose
Amaurosis hypertrichosis syndrome
A rare, syndromic, inherited retinal disorder characterized by cone-rod type congenital amaurosis, severe retinal dystrophy leading to visual impairment and profound photophobia (without night blindness), and trichomegaly (bushy eyebrows with synophrys, excessive facial and body hair including marked circumareolar hypertrichosis). There have been no further descriptions in the literature since 1989.
Id720983002
StatusPrimitive
Associated morphologyverandering in groei
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydystrofie
Finding sitestructuur van retina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetH35.5
TermHereditaire retinadystrofie
SNOMED CT to Orphanet simple map1021
SNOMED CT to ICD-10 extended map
TargetH35.5
RuleTRUE
AdviceALWAYS H35.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified