Congenital macrocephaly	Developmental hereditary disorder	Intellectual disability	X-linked recessive hereditary disease
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X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder)
	X-linked intellectual disability, macrocephaly, macroorchidism syndrome
	Johnson syndrome
	This syndrome has characteristics of intellectual deficit affecting both sexes, macrocephaly, and macroorchidism in the majority of affected males. It has been described in 12 individuals from two generations of one family. Other males from this family did not display intellectual deficit but did present macroorchidism and macrocephaly. Transmission is X-linked and the causative gene has been located to the q12-q21 region of the X chromosome.
	X-gebonden syndroom van verstandelijke beperking, macrocefalie en macro-orchidie
	X-gebonden syndroom van mentale retardatie, macrocefalie en macro-orchidisme X-gebonden syndroom van verstandelijke handicap, macrocefalie en macro-orchidisme syndroom van Johnson

Id	719825000
Status	Primitive

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

Has interpretation	Above reference range
Interprets	Head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified