| syndroom van microcefalie, congenitaal cataract en psoriasiforme dermatitis (aandoening) | | syndroom van microcefalie, congenitaal cataract en psoriasiforme dermatitis | | SMO-deficiëntie
deficiëntie 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. |
| | Id | 1172683008 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 488168 |
| SNOMED CT to ICD-10 extended map | | Target | E88.8 | | Rule | TRUE | | Advice | ALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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