Autosomal recessive hereditary disorder	Multiple epiphyseal dysplasia
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Multiple epiphyseal dysplasia Al-Gazali type (disorder)
	Multiple epiphyseal dysplasia Al-Gazali type
	Multiple epiphyseal dysplasia and macrocephaly with distinctive facies syndrome
	A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner.
	multipele epifysaire dysplasie Al-Gazali-type
	meervoudige epifysaire dysplasie type Al-Gazali syndroom van meervoudige epifysaire dysplasie, macrocefalie en typisch aangezicht

Id	719688002
Status	Primitive

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

Clinical course

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q77.3
Rule	TRUE
Advice	ALWAYS Q77.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified