alpha 1-antitrypsin deficiency

Preferred Label : alpha 1-antitrypsin deficiency;

MeSH definition : Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN that manifests primarily as PULMONARY EMPHYSEMA and LIVER CIRRHOSIS.;

MeSH synonym : deficiencies, alpha 1-antitrypsin; deficiency, alpha 1-antitrypsin; alpha 1-antitrypsin deficiencies; alpha 1 antitrypsin deficiency;

MeSH annotation : Pi or PiZZ goes here PHENOTYPE;

Wikipedia link : https://en.wikipedia.org/wiki/Alpha 1-antitrypsin deficiency;

Details

Origin ID

D019896;

UMLS CUI

C0221757;

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]
Currated CISMeF NLP mapping
- Alpha 1 antitrypsine deficiency [PASCAL descriptor]
- Alpha-1 Antitrypsin Deficiency [NCIt concept]
- 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 [DO Concept]
- 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]
Manual NTBT mappings (CISMeF)
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Rare genetic respiratory disease [ORDO Disease]
- Rare metabolic liver disease [ORDO Disease]
- Rare pulmonary disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- alpha 1-Antitrypsin [MeSH Descriptor]
MedlinePlus topic(s)
- alpha-1 antitrypsin deficiency [MedlinePlus Topic]
ORDO relation(s)
- Alpha-1-antitrypsin deficiency [ORDO Disease]
Record concept(s)
- alpha 1-Antitrypsin deficiency [MeSH concept]
Related MeSH Supplementary Concept(s)
- alpha-1-Antitrypsin deficiency, autosomal recessive [MeSH Supplementary Concept]
See also
- alpha 1-Antitrypsin [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alpha 1 antitrypsine deficiency [PASCAL descriptor]
- Alpha-1 Antitrypsin Deficiency [NCIt concept]
- 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 [OMIM Phenotype]
- Alpha-1-antitrypsin deficiency [ORDO Disease]
- 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 [DO Concept]
- alpha-1 anti-trypsin deficiency [MedDRA Preferred Term]
- alpha-1 antitrypsin deficiency [MedlinePlus Topic]
- alpha-1-antitrypsin deficiency [SNOMED Notion]

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