Autosomal recessive hereditary disorder	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
	Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).

Id	733092009
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Abnormal smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Birth head circumference

Finding site

Gonadal endocrine structure

Has interpretation	Below reference range
Interprets	Body height

SNOMED CT to Orphanet simple map

SNOMED CT to ICD-10 extended map

Target	E22.8
Rule	TRUE
Advice	ALWAYS E22.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q02
Rule	TRUE
Advice	ALWAYS Q02
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E28.3
Rule	IFA 248152002 \| Female (finding) \|
Advice	IF FEMALE CHOOSE E28.3 \| MAP IS CONTEXT DEPENDENT FOR GENDER
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E29.1
Rule	IFA 248153007 \| Male (finding) \|
Advice	IF MALE CHOOSE E29.1 \| MAP IS CONTEXT DEPENDENT FOR GENDER
Correlation	SNOMED CT source code to target map code correlation not specified

Target
Rule	OTHERWISE TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E34.3
Rule	TRUE
Advice	ALWAYS E34.3
Correlation	SNOMED CT source code to target map code correlation not specified