Meconium ileus

Preferred Label : Meconium ileus;

Type : Phenotype, molecular basis known;

Description : Meconium ileus refers to intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium (summary by Romi et al., 2012). Meconium ileus is a known clinical manifestation of cystic fibrosis (CF; 219700), and meconium ileus in the absence of CF is a rare phenomenon (summary by Tal et al., 1985).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the guanylate cyclase 2C gene (GUCY2C, 601330.0002);

Prefixed ID : #614665;

Details

Origin ID

614665;

UMLS CUI

C2939175;

Automatic exact mappings (from CISMeF team)
- Cystic fibrosis with intestinal manifestations [ICD-10 Sub-category (who)]
- Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency [ORDO Disease]
- Meconium ileus [ACR pathology]
- cystic fibrosis with meconium ileus [SNOMED Notion]
Currated CISMeF NLP mapping
- Ileus meconium [MedDRA LLT]
- Meconium Ileus [NCIt concept]
- Meconium Ileus [MeSH Descriptor]
- Meconium Ileus [MeSH concept]
- Meconium ileus [PASCAL descriptor]
- Meconium ileus [ICD-10 category (who)]
- Meconium ileus [HPO term]
- Meconium ileus [MedDRA Preferred Term]
- Meconium ileus (disorder) [SNOMED CT concept]
- meconium ileus [Disease (Nov.)]
- meconium ileus [Radlex concept]
False automatic mappings
- Cystic fibrosis with meconium ileus (disorder) [SNOMED CT concept]
Genes related to phenotype
- Guanylate cyclase 2c [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Meconium ileus [HPO term]
- Microcolon [HPO term]
Not associated HPO term(s)
- Abnormal sweat electrolytes [HPO term]
ORDO concept(s)
- Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ileus meconium [MedDRA LLT]
- Meconium Ileus [NCIt concept]
- Meconium Ileus [MeSH Descriptor]
- Meconium ileus [ICD-10 category (who)]
- Meconium ileus [MedDRA Preferred Term]
- Meconium ileus [HPO term]
- Meconium ileus [PASCAL descriptor]
- Meconium ileus (disorder) [SNOMED CT concept]
- meconium ileus [Radlex concept]
- meconium ileus [Disease (Nov.)]

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