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syndroom van microcefalie, congenitaal cataract en psoriasiforme dermatitis (aandoening)
syndroom van microcefalie, congenitaal cataract en psoriasiforme dermatitis
SMO-defici├źntie
defici├źntie van sterol-C4-methyloxidase
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
SMO (sterol-C4-methyl oxidase) deficiency
Sterol-C4-methyl oxidase deficiency
A rare sterol biosynthesis disorder characterized by microcephaly, bilateral congenital cataract, mild developmental delay, growth delay with short stature, psoriasiform dermatitis of variable severity and immune dysregulation. Behavioral disorder, joint contractures and arthralgia have also been described.
Id1172683008
StatusPrimitive
Has interpretationonder referentiebereik
Interpretshoofdomtrek
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologypsoriasiform exantheem
Finding sitestructuur van huid
Associated morphologyinflammatoire morfologie
Finding sitestructuur van huid
SNOMED CT to Orphanet simple map488168
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified