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syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte (aandoening)
syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte
syndroom van Mikati-Najjar-Sahli
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome
Mikati Najjar Sahli syndrome
Syndrome with characteristics of microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities). It has been described in five siblings (three males and two females) born to consanguineous parents. Additional congenital anomalies present in some of the patients included cubitus valgus and genu valgum. Early tooth loss was also reported. The mode of transmission appears to be autosomal recessive.
Id733092009
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetE22.8
RuleTRUE
AdviceALWAYS E22.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetQ02
RuleTRUE
AdviceALWAYS Q02
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
TargetE34.3
RuleTRUE
AdviceALWAYS E34.3
CorrelationSNOMED CT source code to target map code correlation not specified