Carboxypeptidase N Deficiency

Preferred Label : Carboxypeptidase N Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.;

Details

Origin ID

C132196;

UMLS CUI

C0398782;

Automatic exact mappings (from CISMeF team)
- carboxypeptidase N deficiency [DO Concept]
Currated CISMeF NLP mapping
- Anaphylotoxin inactivator deficiency (disorder) [SNOMED CT concept]
- Carboxypeptidase n deficiency [OMIM Phenotype]
- carboxypeptidase N deficiency [MeSH concept]
- carboxypeptidase N deficiency [MeSH Supplementary Concept]
- carboxypeptidase N deficiency [Disease (Nov.)]
DO Cross reference
- carboxypeptidase N deficiency [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Anaphylotoxin inactivator deficiency (disorder) [SNOMED CT concept]
- Carboxypeptidase n deficiency [OMIM Phenotype]
- Deficiency of carboxypeptidase B (disorder) [SNOMED CT concept]
- carboxypeptidase N deficiency [MeSH Supplementary Concept]
- carboxypeptidase N deficiency [MeSH concept]
- carboxypeptidase N deficiency [Disease (Nov.)]
- carboxypeptidase N deficiency [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- CPN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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