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, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\DYRK1A-related intellectual disability syndrome\DYRK1A-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\DYRK1A-related intellectual disability syndrome\DYRK1A-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\DYRK1A-related intellectual disability syndrome\DYRK1A-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\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Genetic disease\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Deletion of part of chromosome 21\DYRK1A-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\DYRK1A-related intellectual disability syndrome\DYRK1A-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\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 21\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 21\Deletion of part of chromosome 21\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\DYRK1A-related intellectual disability syndrome\DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

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	Initial character case insensitive	SNOMED CT core
3759527011	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	en	Synonym	Active	Case sensitive	SNOMED CT core
3759528018	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759531017	21q22.13q22.2 microdeletion syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759532012	Monosomy 21q22.13q22.2	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3759529014	A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.	en	Definition	Active	Case sensitive	SNOMED CT core
3759530016	A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start