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1179301003: 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
11841751000172111 syndrome DYRK1A fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
11841761000172113 syndrome de déficience intellectuelle lié à DYRK1A (dual specificity tyrosine phosphorylation regulated kinase 1A) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
7471501000172114 DYRK1A-gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
7471511000172112 'dual specificity tyrosine phosphorylation regulated kinase 1A'-gerelateerd syndroom van verstandelijke beperking nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
7471521000172119 DYRK1A-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
7471531000172116 DYRK1A-gerelateerd syndroom van mentale retardatie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
7471541000172111 MRD7-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
7471551000172113 DYRK1A-gerelateerd syndroom van verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)


1 descendants. Search Descendants:

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
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 2
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Has interpretation Impaired true Inferred relationship Some 3

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

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