|||||
syndroom van craniofaciale, digitale en genitale afwijkingen (aandoening)
syndroom van craniofaciale, digitale en genitale afwijkingen
syndroom van Harrod
Harrod-syndroom
cranio-facio-digito-genitaal-syndroom
syndroom van craniofaciale, digitale en genitale anomalie├źn
Harrod syndrome
Craniofacial digital and genital anomalies syndrome
Cranio-facio-digito-genital syndrome
The association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. So far, it has been described in three males (including two brothers). An autosomal recessive mode of transmission has been suggested.
Id716089008
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitebotstructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.4
RuleTRUE
AdviceALWAYS Q87.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ52.9
RuleIFA 248152002 | Female (finding) |
AdviceIF FEMALE CHOOSE Q52.9 | MAP IS CONTEXT DEPENDENT FOR GENDER
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ55.9
RuleIFA 248153007 | Male (finding) |
AdviceIF MALE CHOOSE Q55.9 | 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
TargetF79.9
RuleTRUE
AdviceALWAYS F79.9
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ75.8
RuleTRUE
AdviceALWAYS Q75.8
CorrelationSNOMED CT source code to target map code correlation not specified