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syndroom van choroidea-atrofie en alopecia (aandoening)
syndroom van choroidea-atrofie en alopecia
syndroom van choroïdale atrofie en alopecia
syndroom van Moloney
Choroidal atrophy and alopecia syndrome
Regional choroidal atrophy and alopecia
Moloney syndrome
A very rare ectodermal dysplasia syndrome with the association of choroidal atrophy (sometimes regional), together with other ectodermal dysplasia features including fine and sparse hair, absent or decreased lashes and eyebrows, and possibly mild visual loss and dysplastic/thick/grooved nails.
Id720850008
StatusPrimitive
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyatrophia
Finding sitestructuur van choroidea
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.4
TermEctodermale dysplasie (anhidrotisch)
TargetH31.1
TermDegeneratie van choroidea
TargetQ84.0
TermCongenitale alopecia
SNOMED CT to Orphanet simple map1433
SNOMED CT to ICD-10 extended map
TargetQ82.4
RuleTRUE
AdviceALWAYS Q82.4 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH31.1
RuleTRUE
AdviceALWAYS H31.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ84.0
RuleTRUE
AdviceALWAYS Q84.0
CorrelationSNOMED CT source code to target map code correlation not specified