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

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\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\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)

\Disease\Genetic disease\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Only initial character case insensitive (core metadata concept) SNOMED CT core

4650644016 DYRK1A-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4650645015 Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

4650646019 DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4650647011 DYRK1A syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5345861000052111 syndrom med DYRK1A-relaterad intellektuell funktionsnedsättning sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Is a	Genetic disease	true	Inferred relationship	Some
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder)	Is a	True	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4650644016	DYRK1A-related intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650645015	Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4650646019	DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A)-related intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4650647011	DYRK1A syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5345861000052111	syndrom med DYRK1A-relaterad intellektuell funktionsnedsättning	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)