autosomaal recessieve hereditaire aandoening	congenitaal cataract	congenitale hypertrichose	hereditaire aandoening van integumentum	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen	verstandelijke beperking
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syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking (aandoening)
	syndroom van congenitaal cataract, hypertrichose en verstandelijke beperking
	syndroom van congenitaal cataract, hypertrichose en verstandelijke handicap syndroom van congenitaal cataract, hypertrichose en mentale retardatie CAHMR-syndroom
	Congenital cataract with hypertrichosis and intellectual disability syndrome
	CAHMR (cataract, hypertrichosis, mental retardation) syndrome CAHMR syndrome
	This syndrome is characterized by congenital cataract, generalized hypertrichosis and intellectual deficit. It has been described in two Egyptian siblings born to consanguineous parents. It is transmitted as an autosomal recessive trait.

Id	722379001
Status	Primitive

Associated morphology	troebeling
Finding site	structuur van lens cristallina
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	verandering in groei
Finding site	structuur van pilus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q12.0
Term	Congenitaal cataract

Target	Q84.2
Term	Overige congenitale misvormingen van haar

Target	F79.9
Term	Niet gespecificeerde zwakzinnigheid; Zonder vermelding van gedragsstoornissen

SNOMED CT to Orphanet simple map

1375

SNOMED CT to ICD-10 extended map

Target	Q12.0
Rule	TRUE
Advice	ALWAYS Q12.0
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q84.2
Rule	TRUE
Advice	ALWAYS Q84.2
Correlation	SNOMED CT source code to target map code correlation not specified

Target	F79.9
Rule	TRUE
Advice	ALWAYS F79.9
Correlation	SNOMED CT source code to target map code correlation not specified