783619003: Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

\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\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

\Disease\Genetic disease\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\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\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\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\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\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\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\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\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

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

3759526019 Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3759527011 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion en Synonym Active Entire term case sensitive SNOMED CT core module

3759528018 Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion en Synonym Active Only initial character case insensitive SNOMED CT core module

3759531017 21q22.13q22.2 microdeletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3759532012 Monosomy 21q22.13q22.2 en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Is a	Multiple malformation syndrome with facial defects as major feature	false	Inferred relationship	Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Is a	Genetic disease	false	Inferred relationship	Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Is a	Intellectual disability	false	Inferred relationship	Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Is a	Deletion of part of chromosome 21	true	Inferred relationship	Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Finding site	Chromosome pair 21	true	Inferred relationship	Existential restriction modifier	2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Is a	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome	true	Inferred relationship	Existential restriction modifier
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3759526019	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3759527011	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3759528018	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3759531017	21q22.13q22.2 microdeletion syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3759532012	Monosomy 21q22.13q22.2	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module