Gastroschisis - CISMeF

Preferred Label : Gastroschisis;

Type : Other, mainly phenotypes with suspected mendelian basis;

Included titles and symbols : Abdominal wall defects;

Description : Gastroschisis is a congenital defect of the abdominal wall that occurs laterally to, and often to the right of, a normally closed umbilical ring. Visceral organs that herniate through the defect are not covered by a membrane. Gastroschisis is distinct from omphalocele (164750), which is characterized by herniation of abdominal contents through the base of the umbilical cord; in omphalocele, the visceral organs are covered by membranes (summary by Mastroiacovo et al., 2007). Both omphalocele and gastroschisis, when they occur without other malformations, are probably multifactorial (Baird and MacDonald, 1981).;

Inheritance : Autosomal recessive vs. multifactorial;

Prefixed ID : 230750;

Details

Origin ID

230750;

UMLS CUI

C0265706;

Automatic exact mappings (from CISMeF team)
- Abdominal wall defect [HPO term]
- Gastroschisis [ICD-9 code]
Currated CISMeF NLP mapping
- Gastroschisis [NCIt concept]
- Gastroschisis [HRDO Sign]
- Gastroschisis [ORDO Disease]
- Gastroschisis [HPO term]
- Gastroschisis [MedDRA Preferred Term]
- Gastroschisis [ICD-10 Sub-category]
- Gastroschisis [ICD-10 Sub-category (who)]
- Gastroschisis [ICD-11 Category]
- Gastroschisis (disorder) [SNOMED CT concept]
- gastroschisis [Disease (Nov.)]
- gastroschisis [MeSH Descriptor]
- gastroschisis [DO Concept]
- gastroschisis [MeSH concept]
- gastroschisis [SNOMED Notion]
DO Cross reference
- gastroschisis [DO Concept]
HPO term(s)
- Abdominal wall defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Gastroschisis [HPO term]
- Multifactorial inheritance [HPO term]
ORDO concept(s)
- Gastroschisis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gastroschisis [MedDRA Preferred Term]
- Gastroschisis [ICD-10 Sub-category (who)]
- Gastroschisis [ORDO Disease]
- Gastroschisis [NCIt concept]
- Gastroschisis [ICD-10 Sub-category]
- Gastroschisis [HPO term]
- Gastroschisis [HRDO Sign]
- Gastroschisis [ICD-9 code]
- Gastroschisis [ICD-11 Category]
- Gastroschisis (disorder) [SNOMED CT concept]
- gastroschisis [SNOMED Notion]
- gastroschisis [MeSH Descriptor]
- gastroschisis [MeSH concept]
- gastroschisis [DO Concept]
- gastroschisis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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