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syndroom van alopecia, verstandelijke beperking en hypergonadotroop hypogonadisme (aandoening)
syndroom van alopecia, verstandelijke beperking en hypergonadotroop hypogonadisme
syndroom van alopecia, mentale retardatie en hypergonadotroop hypogonadisme
syndroom van alopecia, verstandelijke handicap en hypergonadotroop hypogonadisme
syndroom van Devriendt-Vandenberghe-Fryns
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome
Devriendt Vandenberghe Fryns syndrome
This syndrome has characteristics of the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to non consanguineous parents of Caucasian origin. Electroencephalogram findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded.
Id720981000
StatusPrimitive
Associated morphologyafwezigheid
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ84.0
RuleTRUE
AdviceALWAYS Q84.0
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
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