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syndroom van steroïdedehydrogenasedeficiëntie en dentale anomalieën (aandoening)
syndroom van steroïdedehydrogenasedeficiëntie en dentale anomalieën
syndroom van Lyngstadaas
Steroid dehydrogenase deficiency and dental anomaly syndrome
Lyngstadaas syndrome
A rare metabolic liver disease characterized by progressive liver disease and early cirrhosis due to accumulation of toxic cholesterol metabolites, which are detectable in bile, plasma, and urine, in association with dental abnormalities such as general hypomineralization and enamel hypoplasia, as well as occurrence of supernumerary teeth. There have been no further descriptions in the literature since 1996.
Id723583009
StatusPrimitive
Associated morphologyafwijkend aantal
Finding sitestructuur van gebitselement
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetK76.8
TermOverige gespecificeerde leverziekten
TargetK00.9
TermStoornis van tandontwikkeling, niet gespecificeerd
SNOMED CT to Orphanet simple map3196
SNOMED CT to ICD-10 extended map
TargetK76.8
RuleTRUE
AdviceALWAYS K76.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetK00.9
RuleTRUE
AdviceALWAYS K00.9
CorrelationSNOMED CT source code to target map code correlation not specified