1229882003: 11q22.2q22.3 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\11q22.2q22.3 microdeletion syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\11q22.2q22.3 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\11q22.2q22.3 microdeletion syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 microdeletion syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 microdeletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\11q22.2q22.3 microdeletion syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\11q22.2q22.3 microdeletion syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\11q22.2q22.3 microdeletion syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\11q22.2q22.3 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 11\11q partial monosomy syndrome\11q22.2q22.3 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11\11q partial monosomy syndrome\11q22.2q22.3 microdeletion syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 microdeletion syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 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 11\11q partial monosomy syndrome\11q22.2q22.3 microdeletion syndrome
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 11\Deletion of part of chromosome 11\11q partial monosomy syndrome\11q22.2q22.3 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\11q22.2q22.3 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 microdeletion syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\11q22.2q22.3 microdeletion syndrome
• \Disease\Developmental disorder\Developmental delay\11q22.2q22.3 microdeletion syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\11q22.2q22.3 microdeletion syndrome

Status: current, Primitive. Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5065610010	11q22.2q22.3 microdeletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
5065611014	11q22.2q22.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5065612019	Monosomy 11q22.2q22.3	en	Synonym	Active	Case insensitive	SNOMED CT core
5065613012	A rare chromosomal anomaly with characteristics of mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start