Trypsinogen deficiency

Preferred Label : Trypsinogen deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Trypsinogen deficiency; Hypoproteinemia; Normal sweat electrolytes;

Prefixed ID : 614044;

Details

Origin ID

614044;

UMLS CUI

C0268417;

Currated CISMeF NLP mapping
- Trypsinogen deficiency (disorder) [SNOMED CT concept]
HPO term(s)
- Anal atresia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Failure to thrive [HPO term]
- Hypoproteinemia [HPO term]
Not associated HPO term(s)
- Abnormal sweat electrolytes [HPO term]
See also inter- (CISMeF)
- Deficiency of phosphoserine phosphatase (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pancreatic trypsinogen deficiency (disorder) [SNOMED CT concept]
- Trypsinogen deficiency (disorder) [SNOMED CT concept]
- pancreatic trypsinogen deficiency [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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