1179301003: Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\DYRK1A-related intellectual disability syndrome
• \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
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\DYRK1A-related intellectual disability syndrome
• \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
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\DYRK1A-related intellectual disability syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\DYRK1A-related intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\DYRK1A-related intellectual disability syndrome
• \Disease\Genetic disease\DYRK1A-related intellectual disability syndrome
• \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
• \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
• \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
• \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
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\DYRK1A-related intellectual disability syndrome
• \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
• \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

Status: current, Primitive. Date: 31-Oct 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4650643010	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
4650644016	DYRK1A-related intellectual disability syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4650645015	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
4650646019	DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4650647011	DYRK1A syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4650648018	A rare genetic syndromic intellectual disability characterised by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behaviour problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects. The disease can be caused by a single nucleotide variant in the DYRK1A gene (21q22.13) or due to a chromosome 22q22.13 (micro)deletion including the DYRK1A gene. Mutations can occur de novo.	en	Definition	Active	Case sensitive	SNOMED CT core
4650649014	A rare genetic syndromic intellectual disability characterized by microcephaly, global developmental delay, mild to severe intellectual disability, impairment of speech, feeding problems, behavior problems (often autism spectrum disorder) and dysmorphic facial features (such as prominent ears, deep-set eyes, a short nose with a broad nasal tip, and retrognathia with a broad chin). Other, more variable manifestations include seizures, short stature, ocular anomalies, cardiac anomalies, urogenital anomalies and musculoskeletal defects. The disease can be caused by a single nucleotide variant in the DYRK1A gene (21q22.13) or due to a chromosome 22q22.13 (micro)deletion including the DYRK1A gene. Mutations can occur de novo.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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