autosomaal recessieve hereditaire aandoening	congenitaal cataract	congenitaal perceptief gehoorverlies	gehoorverlies bij syndroom	hereditaire aandoening van auditief systeem	hereditaire aandoening van endocrien systeem	hereditaire aandoening van visueel systeem	hereditaire aandoening van voortplantingsstelsel	hereditaire ontwikkelingsstoornis	hypogonadisme	malformatiesyndroom met betrokkenheid van meerdere systemen	verstandelijke beperking
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syndroom van congenitaal cataract, doofheid en hypogonadisme (aandoening)
	syndroom van congenitaal cataract, doofheid en hypogonadisme
	syndroom van Schaap-Taylor-Baraitser
	Congenital cataract with deafness and hypogonadism syndrome
	Schaap Taylor Baraitser syndrome
	An extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, with the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995.

Id	722378009
Status	Primitive

Finding site	structuur van auditief systeem
Occurrence	congenitaal

Has interpretation	gestoord
Interprets	gehoorfunctie

Finding site	endocriene structuur van gonade
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

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

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

SNOMED CT to Orphanet simple map

1383

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	H90.5
Rule	TRUE
Advice	ALWAYS H90.5
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

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syndroom van congenitaal cataract, doofheid en hypogonadisme bij man

syndroom van congenitaal cataract, doofheid en hypogonadisme bij vrouw