Polyposis, skin pigmentation, alopecia, and fingernail changes

Preferred Label : Polyposis, skin pigmentation, alopecia, and fingernail changes;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Cronkhite-canada syndrome;

Description : Cronkhite-Canada syndrome is characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. It is associated with high morbidity (summary by Sweetser et al., 2012).;

Inheritance : Isolated cases;

Neoplasia : Gastrointestinal carcinoma;

Laboratory abnormalities : Hypocalcemia; Hypomagnesemia; Hypokalemia;

Prefixed ID : 175500;

Details

Origin ID

175500;

UMLS CUI

C0282207;

Automatic exact mappings (from CISMeF team)
- intestinal polyposis [MeSH Descriptor]
Currated CISMeF NLP mapping
- Cronkhite-Canada Syndrome [MeSH Descriptor]
- Cronkhite-Canada syndrome [PASCAL descriptor]
- Cronkhite-Canada syndrome [DO Concept]
- Cronkhite-Canada syndrome [ICD-11 Sub-sub category]
- Cronkhite-Canada syndrome [MedDRA Preferred Term]
- Cronkhite-Canada syndrome [MeSH concept]
- Cronkhite-Canada syndrome [ORDO Disease]
- Cronkhite-Canada syndrome (disorder) [SNOMED CT concept]
- Gastric Cronkhite Canada Polyposis [NCIt concept]
- cronkhite-canada syndrome [SNOMED Notion]
DO Cross reference
- Cronkhite-Canada syndrome [DO Concept]
HPO term(s)
- Abdominal pain [HPO term]
- Alopecia [HPO term]
- Anemia [HPO term]
- Anorexia [HPO term]
- Cachexia [HPO term]
- Cataract [HPO term]
- Clubbing [HPO term]
- Clubbing of fingers [HPO term]
- Diarrhea [HPO term]
- Gastrointestinal carcinoma [HPO term]
- Glossitis [HPO term]
- Hamartomatous polyposis [HPO term]
- Hematochezia [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypocalcemia [HPO term]
- Hypokalemia [HPO term]
- Hypomagnesemia [HPO term]
- Isolated cases [HPO term]
- Malabsorption [HPO term]
- Muscle weakness [HPO term]
- Nail dysplasia [HPO term]
- Nail dystrophy [HPO term]
- Paresthesia [HPO term]
- Protein-losing enteropathy [HPO term]
- Sporadic [HPO term]
- Thromboembolism [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
- Xerostomia [HPO term]
ORDO concept(s)
- Cronkhite-Canada syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cronkhite-Canada Syndrome [MeSH Descriptor]
- Cronkhite-Canada syndrome [MedDRA Preferred Term]
- Cronkhite-Canada syndrome [ORDO Disease]
- Cronkhite-Canada syndrome [MeSH concept]
- Cronkhite-Canada syndrome (disorder) [SNOMED CT concept]
- cronkhite-canada syndrome [SNOMED Notion]

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