Autosomal recessive hereditary disorder	Congenital immunodeficiency disease	Congenital microcephaly	Developmental hereditary disorder	Multiple malformation syndrome with facial defects as major feature	Primary immune deficiency disorder
\|	\|	\|	\|	\|	\|

Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
	Say Barber Miller syndrome
	Syndrome with characteristics of unusual facial features, microcephaly, developmental delay, and severe postnatal growth retardation. It has been reported in two brothers born to normal parents. Additional features include hypogonadism, flexion contractures, hypoplastic patella, scoliosis, eczema and recurrent infections. The characteristic facies were marked by sloping forehead, beaked nose, large protruding ears and micrognathia. Low levels of serum gammaglobulins and defective chemotaxis were detected in both boys during infancy.
	syndroom van microcefalie, hypogammaglobulinemie en abnormale immuniteit
	syndroom van Say-Barber-Miller

Id	721903007
Status	Primitive

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

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

Pathological process

Abnormal immune 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 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified