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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\21q22.11q22.12 microdeletion syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\21q22.11q22.12 microdeletion syndrome
• \Finding of general physiological development\Disorder of stature\Short stature disorder\21q22.11q22.12 microdeletion syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\21q22.11q22.12 microdeletion syndrome
• \Disease\Genetic disease\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of foetus and/or newborn\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 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \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 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Deletion of part of chromosome 21 (disorder)\21q partial monosomy syndrome\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\21q22.11q22.12 microdeletion syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\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 (disorder)\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 (disorder)\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 (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3774792010	21q22.11q22.12 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3774793017	Monosomy 21q22.11q22.12	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3774794011	21q22.11q22.12 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3775518015	A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3775519011	A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioral problems and seizures may be associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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