Autosomal recessive hereditary disorder	Congenital microcephaly	Multiple epiphyseal dysplasia
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Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)
	Epiphyseal dysplasia, microcephalus, nystagmus syndrome
	Lowry Wood syndrome
	Syndrome with the association of epiphyseal dysplasia, short stature, microcephaly and in the first reported cases congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
	syndroom van epifysaire dysplasie, microcefalie en nystagmus
	syndroom van Lowry-Wood

Id	721975004
Status	Primitive

Associated morphology	Dysplasia
Finding site	Structure of epiphysis
Occurrence	Congenital
Pathological process	Pathological developmental process

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

Clinical course

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	Q87.5
Rule	TRUE
Advice	ALWAYS Q87.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified