Disorder of cholesterol synthesis
Multiple malformation syndrome, moderate short stature, facial
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Smith-Lemli-Opitz syndrome (disorder)
Smith-Lemli-Opitz syndrome
7-Dehydrocholesterol reductase deficiency
Id43929004
StatusPrimitive
Associated morphologyMorphologically abnormal structure
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.1
TermCongenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1
CorrelationSNOMED CT source code to target map code correlation not specified