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syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme (aandoening)
syndroom van congenitale spierdystrofie, infantiel cataract en hypogonadisme
congenitale spierdystrofie met infantiel cataract en hypogonadisme
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.
Id715429006
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologytroebeling
Finding sitestructuur van lens cristallina
Occurrencezuigelingenperiode
Clinical courseprogressief
DHD Diagnosethesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetG71.2
RuleTRUE
AdviceALWAYS G71.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH26.0
RuleTRUE
AdviceALWAYS H26.0
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