enterokinase deficiency

Preferred Label : enterokinase deficiency;

MeSH note : mutation in PRSS7;

MeSH synonym : enteropeptidase deficiency;

Origin ID

C562649;

UMLS CUI

C0268416;

Automatic exact mappings (from CISMeF team)
- enterokinase deficiency [DO Concept]
Currated CISMeF NLP mapping
- Deficiency of enteropeptidase (disorder) [SNOMED CT concept]
- Enterokinase deficiency [OMIM Phenotype]
- Enterokinase deficiency (disorder) [SNOMED CT concept]
DO Cross reference
- enterokinase deficiency [DO Concept]
MeSH term(s) associated for indexing
- enteropeptidase [MeSH Descriptor]
- metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- enterokinase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital enteropathy due to enteropeptidase deficiency [ORDO Disease]
- Deficiency of enteropeptidase (disorder) [SNOMED CT concept]
- Enterokinase deficiency [OMIM Phenotype]
- Enterokinase deficiency (disorder) [SNOMED CT concept]
- Intestinal enteropeptidase deficiency (disorder) [SNOMED CT concept]
- enterokinase deficiency [DO Concept]
- intestinal enteropeptidase deficiency [SNOMED Notion]