Autosomal recessive hereditary disorder	Congenital anomaly of face	Congenital anomaly of frontal bone	Congenital microcephaly	Developmental hereditary disorder	Gonadal dysgenesis	Hereditary disorder of musculoskeletal system	Reproductive system hereditary disorder
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Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)
	MacDermot Winter syndrome
	Prominent glabella with microcephaly and hypogenitalism syndrome
	A very rare syndrome described in two siblings with manifestation of prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.
	syndroom van prominente glabella, microcefalie en hypogonadisme
	syndroom van prominente glabella, microcefalie en hypogenitalisme

Id	716023007
Status	Primitive

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

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

Associated morphology	Morphologically abnormal structure
Finding site	Structure of glabella
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Below reference range
Interprets	Birth head circumference

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8
Correlation	SNOMED CT source code to target map code correlation not specified