alpha-1-antitrypsin deficiency - CISMeF

CISMeF

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Alpha-1-antitrypsin deficiencySNOMED Notion

Preferred Label : alpha-1-antitrypsin deficiency;

Details

Origin ID

D6-72550;

UMLS CUI

C0221757;

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 [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]
ICD-10 exact mapping(s)
- Disorders of plasma-protein metabolism, not elsewhere classified [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Alpha-1-antichymotrypsin deficiency [ORDO Disease]
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]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- alpha1 anti-trypsin [SNOMED Notion]
SNOMED CT concept
- Alpha-1-antitrypsin deficiency (disorder) [SNOMED CT concept]
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 [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]

Keyword's position in hierarchy(ies) :

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07/05/2025

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