Inflammatory bowel disease (crohn disease) 1

Preferred Label : Inflammatory bowel disease (crohn disease) 1;

Symbol : IBD1;

CISMeF acronym : IBD1;

Type : Phenotype, molecular basis known;

Included titles and symbols : Regional enteritis; Crohn disease; Ulcerative colitis; Crohn disease-associated growth failure, susceptibility to;

Inheritance : Multifactorial;

Molecular basis : Susceptibility conferred by mutation in the nucleotide-binding oligomerization domain protein 2 gene (NOD2, 605956.0001);

Prefixed ID : #266600;

Details

Origin ID

266600;

UMLS CUI

C0010346;

Automatic exact mappings (from CISMeF team)
- COLITIS ULCERATIVE [WHO-ART Preferred Term]
- Colitis ulcerative [MedDRA Preferred Term]
- Crohn disease of appendix (disorder) [SNOMED CT concept]
- Crohn's disease of scrotum (disorder) [SNOMED CT concept]
- Crohn's disease of skin (disorder) [SNOMED CT concept]
- GALM wt Allele [NCIt concept]
- NOD2 wt Allele [NCIt concept]
- Regional enteritis [ICD-9 code]
- Regional enteritis [MedDRA LLT]
- Ulcerative Colitis [NCIt concept]
- Ulcerative colitis [ICD-9 code]
- Ulcerative colitis [ICD-10 category]
- Ulcerative colitis [DRC RCE]
- Ulcerative colitis [PASCAL descriptor]
- Ulcerative colitis [ICD-11 Category]
- Ulcerative colitis [HPO term]
- Ulcerative colitis [MedDRA LLT]
- Ulcerative colitis [ORDO Disease]
- Ulcerative colitis (disorder) [SNOMED CT concept]
- colitis, ulcerative [MeSH Descriptor]
- colitis, ulcerative [MeSH concept]
- ulcerative colitis [DO Concept]
- ulcerative colitis [Radlex concept]
- ulcerative colitis [MedlinePlus Topic]
Currated CISMeF NLP mapping
- CROHN'S DISEASE [WHO-ART Preferred Term]
- Crohn Disease [NCIt concept]
- Crohn disease [Disease (Nov.)]
- Crohn disease [Radlex concept]
- Crohn disease [ORDO Disease]
- Crohn disease [PASCAL descriptor]
- Crohn disease [ICD-11 Category]
- Crohn disease [Artificial nutrition thesaurus concept]
- Crohn's [MedDRA LLT]
- Crohn's disease [MedDRA Preferred Term]
- Crohn's disease [HPO term]
- Crohn's disease [DO Concept]
- Crohn's disease [HPMULTI term]
- Crohn's disease (disorder) [SNOMED CT concept]
- Crohn's disease [regional enteritis] [ICD-10 category]
- Crohn's disease, unspecified [ICD-10 Sub-category]
- Crohn's enteritis [MedDRA LLT]
- Disease Crohns [MedDRA LLT]
- Inflammation of the large intestine [HPO term]
- chronic enteritis/ulcerative colitis [ICPC-2 Rubric]
- crohn disease [MeSH concept]
- crohn disease [MeSH Descriptor]
- crohn's disease [MedlinePlus Topic]
- crohn's disease, nos [SNOMED Notion]
- inflammatory bowel disease 1 [DO Concept]
DO Cross reference
- inflammatory bowel disease 1 [DO Concept]
Genes related to phenotype
- Interleukin 6 [OMIM gene]
- Nucleotide-binding oligomerization domain protein 2 [OMIM gene]
HPO term(s)
- Abdominal pain [HPO term]
- Aphthous ulcer [HPO term]
- Crohn's disease [HPO term]
- Diarrhea [HPO term]
- Growth delay [HPO term]
- Heterogeneous [HPO term]
- Inflammation of the large intestine [HPO term]
- Intestinal obstruction [HPO term]
- Multifactorial inheritance [HPO term]
- Recurrent aphthous stomatitis [HPO term]
- Ulcerative colitis [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Crohn disease [ORDO Disease]
- Ulcerative colitis [ORDO Disease]
See also inter- (CISMeF)
- ulcerative colitis [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CROHN'S DISEASE [WHO-ART Preferred Term]
- Crohn Disease [NCIt concept]
- Crohn disease [ORDO Disease]
- Crohn disease [Radlex concept]
- Crohn disease [Disease (Nov.)]
- Crohn's [MedDRA LLT]
- Crohn's disease [MedDRA Preferred Term]
- Crohn's disease [HPO term]
- Crohn's disease (disorder) [SNOMED CT concept]
- Crohn's disease [regional enteritis] [ICD-10 category]
- Crohn's disease, unspecified [ICD-10 Sub-category]
- Crohn's enteritis [MedDRA LLT]
- Disease Crohns [MedDRA LLT]
- crohn disease [MeSH Descriptor]
- crohn disease [MeSH concept]
- crohn's disease [MedlinePlus Topic]
- crohn's disease, nos [SNOMED Notion]
- inflammatory bowel disease 1 [DO Concept]

Keyword's position in hierarchy(ies) :

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