770719004: 3q27.3 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\3q27.3 microdeletion syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\3q27.3 microdeletion syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\3q27.3 microdeletion syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\3q27.3 microdeletion syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\3q27.3 microdeletion syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\3q27.3 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3\Deletion of part of long arm of chromosome 3\3q27.3 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Deletion of part of chromosome 3\Deletion of part of long arm of chromosome 3\3q27.3 microdeletion syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 3\Deletion of part of long arm of chromosome 3\3q27.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 3\Deletion of part of chromosome 3\Deletion of part of long arm of chromosome 3\3q27.3 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\3q27.3 microdeletion syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\3q27.3 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\3q27.3 microdeletion syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3702235017	3q27.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3702236016	3q27.3 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3702237013	A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3. The syndrome has characteristics of mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.	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

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