lubani al saleh teebi syndrome

Preferred Label : lubani al saleh teebi syndrome;

Définition CISMeF : Cystic fibrosis - gastritis - megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis (see this term), gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.;

MeSH note : Cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anaemia, subnormal mentality and minor anomalies;

Details

Origin ID

C537039;

UMLS CUI

C2931402;

Currated CISMeF NLP mapping
- Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) [SNOMED CT concept]
- Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development [OMIM Phenotype]
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- anemia, megaloblastic [MeSH Descriptor]
- cystic fibrosis [MeSH Descriptor]
- face [MeSH Descriptor]
- helicobacter infections [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
Record concept(s)
- Lubani Al Saleh Teebi syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) [SNOMED CT concept]
- Cystic fibrosis-gastritis-megaloblastic anemia syndrome [ORDO Disease]

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