787171006: 21q22.11q22.12 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\21q22.11q22.12 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\21q22.11q22.12 microdeletion syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\21q22.11q22.12 microdeletion syndrome
• \Disease\Genetic disease\21q22.11q22.12 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Deletion of part of chromosome 21\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Deletion of part of chromosome 21\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\21q22.11q22.12 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3774792010	21q22.11q22.12 microdeletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3774793017	Monosomy 21q22.11q22.12	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3774794011	21q22.11q22.12 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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