ataxia telangiectasia

Preferred Label : ataxia telangiectasia;

MeSH definition : An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).;

MeSH synonym : syndrome, louis-bar; syndrome, ataxia telangiectasia; louis-bar syndrome; ataxia telangiectasia syndrome; louis bar syndrome; Ataxia-Telangiectasia; telangiectasia, Cerebello-Oculocutaneous;

Wikipedia automatic translation : Ataxia–telangiectasia;

Wikipedia link : https://en.wikipedia.org/wiki/Ataxia–telangiectasia;

Details

Origin ID

D001260;

UMLS CUI

C0004135;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- ATM wt Allele [NCIt concept]
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome [ORDO Disease]
- Arrested labor (finding) [SNOMED CT concept]
- Arterial tortuosity syndrome [ORDO Disease]
- Body temperature [LOINC component]
- Body temperature [MedDRA Preferred Term]
- Temperature [ICNP subject]
- Temperature [LOINC component]
- Temperature [LOINC Property]
- Thorax [ICD-10 Sub-category (who)]
- Thorax [FMA entity]
- Virus-associated trichodysplasia spinulosa [ORDO Disease]
- injury, nos [SNOMED Notion]
- temperature [ICF N3 Element]
- temperature [IUPAC Term]
- temperature, nos [SNOMED Notion]
- thorax, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia [OMIM Phenotype]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia telangiectasia [MedlinePlus Topic]
- ataxia telangiectasia [Radlex concept]
- ataxia-telangiectasia syndrome [SNOMED Notion]
DO Cross reference
- ataxia telangiectasia [DO Concept]
Manual NTBT mappings (CISMeF)
- Autosomal recessive cerebellar ataxia due to a DNA repair defect [ORDO Disease]
- Conjunctival telangiectasia [ORDO Disease]
- DNA repair defect other than combined T-cell and B-cell immunodeficiencies [ORDO Disease]
- Genetic neurodegenerative disease [ORDO Disease]
- Genetic skin vascular disorder [ORDO Disease]
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disability [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Oculomotor apraxia [ORDO Disease]
- Polymalformative genetic syndrome with increased risk of developing cancer [ORDO Disease]
- Rare constitutional hemolytic anemia [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Rare genetic syndromic intellectual disability [ORDO Disease]
- Rare neurodegenerative disease [ORDO Disease]
- Rare syndromic intellectual disability [ORDO Disease]
- Skin vascular disease [ORDO Disease]
MedlinePlus topic(s)
- ataxia telangiectasia [MedlinePlus Topic]
ORDO relation(s)
- Ataxia-telangiectasia [ORDO Disease]
Record concept(s)
- ataxia telangiectasia [MeSH concept]
Related MeSH Supplementary Concept(s)
- Ataxia-Telangiectasia variant [MeSH Supplementary Concept]
- Ataxia-Telangiectasia variant V2 [MeSH Supplementary Concept]
- Ataxia-Telangiectasia with generalized skin pigmentation and early death [MeSH Supplementary Concept]
- ataxia telangiectasia like disorder [MeSH Supplementary Concept]
- early-onset ataxia with oculomotor apraxia and hypoalbuminemia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia Telangiectasia Syndrome [NCIt concept]
- Ataxia telangiectasia [MedDRA Preferred Term]
- Ataxia telangiectasia [PASCAL descriptor]
- Ataxia-telangiectasia [OMIM Phenotype]
- Ataxia-telangiectasia [ORDO Disease]
- Ataxia-telangiectasia [ICD-11 More detail]
- Ataxia-telangiectasia syndrome (disorder) [SNOMED CT concept]
- ataxia telangiectasia [DO Concept]
- ataxia telangiectasia [Radlex concept]
- ataxia telangiectasia [Disease (Nov.)]
- ataxia telangiectasia [MedlinePlus Topic]
- ataxia-telangiectasia syndrome [SNOMED Notion]

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