alpha-1-Antitrypsin deficiency, autosomal recessive

Preferred Label : alpha-1-Antitrypsin deficiency, autosomal recessive;

CISMeF synonym : Alpha-1 Antitrypsin Deficiency;

MeSH synonym : Alpha-1 Protease Inhibitor Deficiency; Inherited Emphysema; Genetic Emphysema; Hereditary Pulmonary Emphysema; Alpha-1 Related Emphysema;

Details

Origin ID

C566273;

UMLS CUI

C3501835;

Automatic exact mappings (from CISMeF team)
- Alpha-1 Antitrypsin Deficiency [NCIt concept]
- Alpha-1 anti-trypsin deficiency [MedDRA LLT]
- Alpha-1 antitrypsin deficiency [MedDRA Preferred Term]
- Alpha-1-antitrypsin deficiency [ORDO Disease]
- Emphysema, hereditary pulmonary [OMIM Phenotype]
- alpha 1-antitrypsin deficiency [DO Concept]
- alpha-1 antitrypsin deficiency [MedlinePlus Topic]
CISMeF manual mappings
- alpha-1 antitrypsin deficiency emphysema [Disease (Nov.)]
MeSH term(s) associated for indexing
- alpha 1-antitrypsin deficiency [MeSH Descriptor]
Record concept(s)
- alpha-1-Antitrypsin deficiency, autosomal recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- alpha-1 antitrypsin deficiency emphysema [Disease (Nov.)]
Validated automatic mappings to NTBT
- alpha 1 antitrypsin deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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