Alpha-1 Antitrypsin Deficiency

Preferred Label : Alpha-1 Antitrypsin Deficiency;

NCIt synonyms : A-1ATD; A1AD;

NCIt related terms : Alpha-1-Antitrypsin Deficiency; Alpha-1 Antitrypsin; Alpha 1-Antitrypsin Disease;

NCIt definition : A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.;

Details

Origin ID

C84397;

UMLS CUI

C0221757;

Automatic exact mappings (from CISMeF team)
- Alpha 1 antitrypsin [LOINC component]
- Alpha-1 anti-trypsin [MedDRA Preferred Term]
- Alpha-1 anti-trypsin deficiency [MedDRA LLT]
- Alpha-1 antitrypsin deficiency [MedDRA Preferred Term]
- Disorders of plasma-protein metabolism, not elsewhere classified [ICD-10 Sub-category (who)]
- alpha 1-Antitrypsin [MeSH Descriptor]
- alpha-1-Antitrypsin deficiency, autosomal recessive [MeSH Supplementary Concept]
- alpha1 anti-trypsin [SNOMED Notion]
Currated CISMeF NLP mapping
- Alpha 1 antitrypsine deficiency [PASCAL descriptor]
- Alpha-1-antitrypsin deficiency [ICD-11 Category]
- Alpha-1-antitrypsin deficiency [ICD-9 code]
- Alpha-1-antitrypsin deficiency [OMIM Phenotype]
- Alpha-1-antitrypsin deficiency [ORDO Disease]
- Alpha-1-antitrypsin deficiency (disorder) [SNOMED CT concept]
- Disorders of plasma-protein metabolism, not elsewhere classified [ICD-10 Sub-category]
- alpha 1 antitrypsin deficiency [Disease (Nov.)]
- alpha 1-Antitrypsin deficiency [MeSH concept]
- alpha 1-antitrypsin deficiency [DO Concept]
- alpha 1-antitrypsin deficiency [MeSH Descriptor]
- alpha-1 anti-trypsin deficiency [MedDRA Preferred Term]
- alpha-1 antitrypsin deficiency [MedlinePlus Topic]
- alpha-1-antitrypsin deficiency [SNOMED Notion]
DO Cross reference
- alpha 1-antitrypsin deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha 1 antitrypsine deficiency [PASCAL descriptor]
- Alpha-1 anti-trypsin deficiency [MedDRA LLT]
- Alpha-1 antitrypsin deficiency [MedDRA Preferred Term]
- Alpha-1 proteinase inhibitor deficiency [MedDRA LLT]
- Alpha-1-antitrypsin deficiency [ORDO Disease]
- Alpha-1-antitrypsin deficiency [OMIM Phenotype]
- Alpha-1-antitrypsin deficiency [ICD-9 code]
- Alpha-1-antitrypsin deficiency (disorder) [SNOMED CT concept]
- alpha 1 antitrypsin deficiency [Disease (Nov.)]
- alpha 1-Antitrypsin deficiency [MeSH concept]
- alpha 1-antitrypsin deficiency [DO Concept]
- alpha 1-antitrypsin deficiency [MeSH Descriptor]
- alpha-1 anti-trypsin deficiency [MedDRA Preferred Term]
- alpha-1 antitrypsin deficiency [MedlinePlus Topic]
- alpha-1-antitrypsin deficiency [SNOMED Notion]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Liver Hepatocellular Carcinoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- SERPINA1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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