Autosomal recessive hereditary disorder	Congenital microcephaly	Developmental hereditary disorder	Multiple system malformation syndrome	Primordial dwarfism
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Microcephalic primordial dwarfism of Toriello type (disorder)
	Microcephalic primordial dwarfism Toriello type
	Microcephalic primordial dwarfism of Toriello type
	Growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. Transmission is autosomal recessive.
	microcefale primordiale dwerggroei Toriello-type

Id	715482004
Status	Primitive

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Height / growth measure

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1
Correlation	SNOMED CT source code to target map code correlation not specified