Autosomal recessive hereditary disorder	Chronic disease of genitourinary system	Congenital hereditary muscular dystrophy	Hereditary disorder of endocrine system	Hereditary disorder of the visual system	Hypogonadism	Infantile cataract	Reproductive system hereditary disorder
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Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)
	Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome
	This syndrome is characterized by congenital muscular dystrophy, infantile cataract and hypogonadism. Transmission appears to be autosomal recessive.
	syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme
	congenitale spierdystrofie met infantiel cataract en hypogonadisme

Id	715429006
Status	Primitive

Associated morphology	Opacity
Finding site	Lens clear
Occurrence	Infancy

Finding site	Gonadal endocrine structure
Occurrence	Congenital

Associated morphology	Dystrophy
Finding site	Skeletal muscle structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Clinical course

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G71.2
Rule	TRUE
Advice	ALWAYS G71.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H26.0
Rule	TRUE
Advice	ALWAYS H26.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E28.3
Rule	IFA 248152002 \| Female (finding) \|
Advice	IF FEMALE CHOOSE E28.3 \| MAP IS CONTEXT DEPENDENT FOR GENDER
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E29.1
Rule	IFA 248153007 \| Male (finding) \|
Advice	IF MALE CHOOSE E29.1 \| MAP IS CONTEXT DEPENDENT FOR GENDER
Correlation	SNOMED CT source code to target map code correlation not specified

Target
Rule	OTHERWISE TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified