OEIS Complex - CISMeF

Preferred Label : OEIS Complex;

NCIt related terms : OEIS Syndrome; Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects; Cloacal Exstrophy;

NCIt definition : A rare combination of congenital abnormalities that includes omphalocele, cloacal exstrophy, imperforate anus, and spine abnormalities.;

Alternative definition : NICHD: A spectrum of anomalies without common etiology that occurs during development of the abdominal wall. Clinical features may include omphalocele, exstrophy of the bladder and rectum, imperforate anus, and spinal defects. Genital and reproductive anomalies may include bifid penis, clitoris, and/or uterus.;

Details

Origin ID

C99142;

UMLS CUI

C1850321;

Automatic exact mappings (from CISMeF team)
- Cloacal exstrophy [ICD-11 Subcategory]
Currated CISMeF NLP mapping
- Cloacal exstrophy [ORDO Disease]
- Cloacal exstrophy [PASCAL descriptor]
- Cloacal exstrophy [MedDRA Preferred Term]
- Cloacal exstrophy [HPO term]
- Exstrophy of cloaca sequence (disorder) [SNOMED CT concept]
- Oeis complex [OMIM Phenotype]
- Omphalocele exstrophy imperforate anus [MeSH concept]
- cloacal exstrophy [DO Concept]
- omphalocele exstrophy imperforate anus [MeSH Supplementary Concept]
See also inter- (CISMeF)
- cloaca exstrophy [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oeis complex [OMIM Phenotype]
- Omphalocele exstrophy imperforate anus [MeSH concept]
- omphalocele exstrophy imperforate anus [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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