Autosomal recessive hereditary disorder	Congenital cataract	Developmental hereditary disorder	Disorder of cholesterol synthesis	Hereditary disorder of the integument	Hereditary disorder of the visual system	Inborn error of lipoprotein metabolism	Microcephaly	Psoriasiform dermatitis
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Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)
	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.
	syndroom van microcefalie, congenitaal cataract en psoriasiforme dermatitis
	SMO-deficiëntie deficiëntie van sterol-C4-methyloxidase

Id	1172683008
Status	Primitive

Has interpretation	Below reference range
Interprets	Head circumference

Associated morphology	Opacity
Finding site	Lens clear
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Psoriasiform rash
Finding site	Skin structure

Associated morphology	Inflammatory morphology
Finding site	Skin structure

ICD-10 complex map reference set

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