1229891004: 20q11.2 microdeletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\20q11.2 microdeletion syndrome (disorder)
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \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\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\20q11.2 microdeletion syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\20q11.2 microdeletion syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\20q11.2 microdeletion syndrome (disorder)
• \Disease\Genetic disease\20q11.2 microdeletion syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q11.2 microdeletion syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q11.2 microdeletion syndrome (disorder)
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q11.2 microdeletion syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q11.2 microdeletion syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\20q11.2 microdeletion syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\20q11.2 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5065647010	20q11.2 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5065648017	20q11.2 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5065661017	A rare genetic syndromic intellectual disability with characteristics of psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition) and craniofacial dysmorphism. Associated prenatal growth retardation and gastrointestinal, heart and eye anomalies have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13651641000172116	microdeletie van chromosoom 20q11.2	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13651651000172119	syndroom van 20q11.2-microdeletie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13651661000172117	20q11.2-microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)

Expanded Value Set

This concept is not in any reference sets

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