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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.
Id722378009
StatusPrimitive
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Interpretsgehoorfunctie
referentieset met complexe 'mapping' naar ICD-10
TargetQ12.0
RuleTRUE
AdviceALWAYS Q12.0
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH90.5
RuleTRUE
AdviceALWAYS H90.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE28.3
RuleIFA 248152002 | Female (finding) |
AdviceIF FEMALE CHOOSE E28.3 | MAP IS CONTEXT DEPENDENT FOR GENDER
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE29.1
RuleIFA 248153007 | Male (finding) |
AdviceIF MALE CHOOSE E29.1 | MAP IS CONTEXT DEPENDENT FOR GENDER
CorrelationSNOMED CT source code to target map code correlation not specified
Target
RuleOTHERWISE TRUE
AdviceMAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
CorrelationSNOMED CT source code to target map code correlation not specified