721903007: Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Say Barber Miller syndrome
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Say Barber Miller syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Say Barber Miller syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Say Barber Miller syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Say Barber Miller syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Primary immune deficiency disorder\Say Barber Miller syndrome
• \Disease\Disorder of immune function\Immunodeficiency disorder\Congenital immunodeficiency disease\Say Barber Miller syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Say Barber Miller syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Say Barber Miller syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \Disease\Congenital disease\Congenital immunodeficiency disease\Say Barber Miller syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Say Barber Miller syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Say Barber Miller syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Say Barber Miller syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326807011	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3326808018	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3326809014	Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3326810016	Say Barber Miller syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3326811017	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.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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