Autism - CISMeF

Preferred Label : Autism;

CISMeF acronym : ASD; AUTS1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Autistic disorder;

Included titles and symbols : Autism, susceptibility to, 1; Autism spectrum disorder; AUTS1; ASD;

Description : Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; 608638) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006). Levy et al. (2009) provided a general review of autism and autism spectrum disorder, including epidemiology, characteristics of the disorder, diagnosis, neurobiologic hypotheses for the etiology, genetics, and treatment options. - Genetic Heterogeneity of Autism Autism is considered to be a complex multifactorial disorder involving many genes. Accordingly, several loci have been identified, some or all of which may contribute to the phenotype. Included in this entry is;

Inheritance : Isolated cases; Multifactorial;

Laboratory abnormalities : Increased serum serotonin in 25%;

Prefixed ID : %209850;

Details

Origin ID

209850;

UMLS CUI

C0004352;

Automatic exact mappings (from CISMeF team)
- Atrial Septal Defect [NCIt concept]
- Atrial septal defect [HPO term]
- Autism Spectrum Disorder [MeSH concept]
- Autism Spectrum Disorder [NCIt concept]
- Autism Spectrum Disorder [MeSH Descriptor]
- Autism spectrum disorder [MedDRA Preferred Term]
- Autistic behavior [HPO term]
- Autistic disorder [MedDRA LLT]
- Autistic disorder [DSM-IV term]
- HEART SEPTAL DEFECT ATRIAL [WHO-ART Included Term]
- Interatrial communication [ORDO Disease]
- Interatrial communication [Vue CIM-11]
- Pervasive developmental disorder (disorder) [SNOMED CT concept]
- autism spectrum disorder [DO Concept]
- autistic disorder [DO Concept]
- child development disorders, pervasive [MeSH Descriptor]
- heart septal defects, atrial [MeSH Descriptor]
- psychosis nos/other [ICPC-2 Rubric]
Currated CISMeF NLP mapping
- Autism [PASCAL descriptor]
- Autism [NCIt concept]
- Autism [LOINC component]
- Autism [HPMULTI term]
- Autism [MedDRA LLT]
- Autism [HPO term]
- Autism [MedDRA Preferred Term]
- Autism [TUV Concept]
- Autism [ORDO Disease]
- Autism spectrum disorder [ICD-11 Category]
- Autistic disorder [ICD-10 Sub-category]
- Autistic disorder [ICD-9 code]
- Autistic disorder (disorder) [SNOMED CT concept]
- Autistic thinking (finding) [SNOMED CT concept]
- autism [Disease (Nov.)]
- autism spectrum disorder [MedlinePlus Topic]
- autistic disorder [MeSH Descriptor]
- autistic disorder [MeSH concept]
- autistic thinking [SNOMED Notion]
DO Cross reference
- autistic disorder [DO Concept]
HPO term(s)
- Autism [HPO term]
- Childhood onset [HPO term]
- Delayed speech and language development [HPO term]
- EEG abnormality [HPO term]
- Heterogeneous [HPO term]
- Impaired ability to form peer relationships [HPO term]
- Increased serum serotonin [HPO term]
- Inflexible adherence to routines or rituals [HPO term]
- Intellectual disability [HPO term]
- Isolated cases [HPO term]
- Lack of spontaneous play [HPO term]
- Multifactorial inheritance [HPO term]
- Onset by 3 years of age [HPO term]
- Restrictive behavior [HPO term]
- Seizure [HPO term]
- Sporadic [HPO term]
ORDO concept(s)
- Autism [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- AUTISM INFANTILE [WHO-ART Preferred Term]
- Autism [MedDRA Preferred Term]
- Autism [LOINC component]
- Autism [ORDO Disease]
- Autism [NCIt concept]
- Autism [HPO term]
- Autism [TUV Concept]
- Autism [MedDRA LLT]
- Autism infantile [MedDRA LLT]
- Autism spectrum disorder [ICD-11 Category]
- Autistic disorder [MedDRA LLT]
- Autistic disorder [ICD-9 code]
- Autistic disorder [ICD-10 Sub-category]
- Autistic disorder (disorder) [SNOMED CT concept]
- Autistic disorder of childhood onset (disorder) [SNOMED CT concept]
- Childhood autism [ICD-10 Sub-category (who)]
- Childhood autism [MedDRA LLT]
- Early infantile autism [MedDRA LLT]
- Infantile autism [MedDRA LLT]
- Infantile autism (disorder) [SNOMED CT concept]
- Kanner's syndrome [MedDRA LLT]
- autistic disorder [MeSH Descriptor]
- autistic disorder [MeSH concept]
- autistic disorder [DO Concept]
- autistic disorder of childhood onset [SNOMED Notion]
- autistic disorder, nos [SNOMED Notion]
- childhood autism [Disease (Nov.)]
Validated automatic mappings to NTBT
- autism spectrum disorder [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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