Autosomal recessive hereditary disorder
Congenital hypergonadotropic hypogonadism
Congenital microcephaly
Developmental hereditary disorder
Hereditary disorder of endocrine system
Multiple malformation syndrome with facial defects as major feature
Primary hypogonadism
Reproductive system hereditary disorder
Short stature disorder
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Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)
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.
syndroom van microcefalie, hypergonadotropisch hypogonadisme en kleine gestalte
syndroom van Mikati-Najjar-Sahli
Id733092009
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationBelow reference range
InterpretsHeight / growth measure
Has interpretationBelow reference range
InterpretsBirth head circumference
Finding siteGonadal endocrine structure
ICD-10 complex map reference set
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