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

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\Congenital disease\Congenital immunodeficiency disease\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326808018	Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326809014	Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326810016	Say Barber Miller syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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