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\Genetic 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\Genetic intellectual disability\21q22.11q22.12 microdeletion syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\21q22.11q22.12 microdeletion syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\21q22.11q22.12 microdeletion syndrome

\Disease\Genetic disease\Genetic intellectual disability\21q22.11q22.12 microdeletion syndrome
\Disease\Fetal and/or neonatal disorder\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\Fetal and/or neonatal disorder\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\Fetal and/or neonatal disorder\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\Fetal and/or neonatal disorder\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\Genetic 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. Date: 30-Jul 2019

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 Inactive 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5408770018 A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by 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
5408771019 A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterised by 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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
21q22.11q22.12 microdeletion syndrome	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	2
21q22.11q22.12 microdeletion syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	SNOMED RT Concept	SNOMED RT Concept
21q22.11q22.12 microdeletion syndrome	Is a	Genetic disease	false	SNOMED RT Concept	SNOMED RT Concept
21q22.11q22.12 microdeletion syndrome	Finding site	Chromosome pair 21	true	SNOMED RT Concept	SNOMED RT Concept	2
21q22.11q22.12 microdeletion syndrome	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	3
21q22.11q22.12 microdeletion syndrome	Is a	Intellectual disability	false	SNOMED RT Concept	SNOMED RT Concept
21q22.11q22.12 microdeletion syndrome	Is a	Short stature disorder	true	SNOMED RT Concept	SNOMED RT Concept
21q22.11q22.12 microdeletion syndrome	Occurrence	Congenital	true	SNOMED RT Concept	SNOMED RT Concept	1
21q22.11q22.12 microdeletion syndrome	Is a	Deletion of part of chromosome 21 (disorder)	false	SNOMED RT Concept	SNOMED RT Concept
21q22.11q22.12 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	false	SNOMED RT Concept	SNOMED RT Concept	2
21q22.11q22.12 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	SNOMED RT Concept	SNOMED RT Concept	1
21q22.11q22.12 microdeletion syndrome	Finding site	Long arm of chromosome	false	SNOMED RT Concept	SNOMED RT Concept	1
21q22.11q22.12 microdeletion syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	SNOMED RT Concept	SNOMED RT Concept	3
21q22.11q22.12 microdeletion syndrome	Finding site	Face structure	true	SNOMED RT Concept	SNOMED RT Concept	3
21q22.11q22.12 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	3
21q22.11q22.12 microdeletion syndrome	Finding site	Chromosome pair 21	true	SNOMED RT Concept	SNOMED RT Concept	1
21q22.11q22.12 microdeletion syndrome	Is a	21q partial monosomy syndrome	true	SNOMED RT Concept	SNOMED RT Concept
21q22.11q22.12 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	2
21q22.11q22.12 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	SNOMED RT Concept	SNOMED RT Concept	1
21q22.11q22.12 microdeletion syndrome	Associated morphology	Deletion of long arm	true	SNOMED RT Concept	SNOMED RT Concept	2
21q22.11q22.12 microdeletion syndrome	Interprets	Height / growth measure	true	SNOMED RT Concept	SNOMED RT Concept	4
21q22.11q22.12 microdeletion syndrome	Interprets	Intellectual ability (observable entity)	true	SNOMED RT Concept	SNOMED RT Concept	5
21q22.11q22.12 microdeletion syndrome	Has interpretation	Impaired	true	SNOMED RT Concept	SNOMED RT Concept	5
21q22.11q22.12 microdeletion syndrome	Interprets	Adaptation behavior (observable entity)	true	SNOMED RT Concept	SNOMED RT Concept	6
21q22.11q22.12 microdeletion syndrome	Has interpretation	Impaired	true	SNOMED RT Concept	SNOMED RT Concept	6
21q22.11q22.12 microdeletion syndrome	Is a	Genetic intellectual disability	true	SNOMED RT Concept	SNOMED RT Concept

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

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	Inactive	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5408770018	A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by 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
5408771019	A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterised by 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