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atypisch syndroom van Werner (aandoening)
atypisch syndroom van Werner
atypisch progeria adultorum
atypisch Werner-syndroom
Atypical Werner syndrome
Atypical progeroid syndrome
Refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome but that do not carry WRN gene mutations. Similar to classical Werner Syndrome caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population. Compared to Werner Syndrome, it has an earlier age of onset (early 20s or earlier) and a more rapid rate of progression.
Id715633008
StatusPrimitive
Occurrencecongenitaal
Finding sitestructuur van huid
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE34.8
TermOverige gespecificeerde endocriene aandoeningen
SNOMED CT to Orphanet simple map79474
SNOMED CT to ICD-10 extended map
TargetE34.8
RuleTRUE
AdviceALWAYS E34.8
CorrelationSNOMED CT source code to target map code correlation not specified