Martinez-frias syndrome

Preferred Label : Martinez-frias syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula;

Description : The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. A possibly distinct syndrome, designated 'Mitchell-Riley,' is characterized by neonatal diabetes and the features of the Martinez-Frias syndrome without tracheoesophageal fistula (Smith et al., 2010).;

Inheritance : Autosomal recessive;

Prefixed ID : %601346;

Details

Origin ID

601346;

UMLS CUI

C1832443;

Automatic exact mappings (from CISMeF team)
- Martinez-Frias syndrome [MeSH concept]
- Martinez-Frias syndrome [MeSH Supplementary Concept]
- Martínez-Frías syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) [SNOMED CT concept]
- Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome [ORDO Disease]
HPO term(s)
- Annular pancreas [HPO term]
- Autosomal recessive inheritance [HPO term]
- Duodenal atresia [HPO term]
- Extrahepatic biliary duct atresia [HPO term]
- Hypoplasia of the gallbladder [HPO term]
- Hypospadias [HPO term]
- Intestinal hypoplasia [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Jejunal atresia [HPO term]
- Pancreatic hypoplasia [HPO term]
- Tracheoesophageal fistula [HPO term]
Matching ORDO disease(s)
- Martínez-Frías syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Martinez-Frias syndrome [MeSH Supplementary Concept]
- Martinez-Frias syndrome [MeSH concept]
- Martínez-Frías syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients