Deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy

Preferred Label : Deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Groll-hirschowitz syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 221400;

Details

Origin ID

221400;

UMLS CUI

C1857338;

Currated CISMeF NLP mapping
- Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) [SNOMED CT concept]
- Deafness-small bowel diverticulosis-neuropathy syndrome [ORDO Disease]
- Groll Hirschowitz syndrome [MeSH concept]
- groll hirschowitz syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral sensorineural deafness [HPO term]
- Fat malabsorption [HPO term]
- Hypoproteinemia [HPO term]
- Jejunoileal ulceration [HPO term]
- Peripheral neuropathy [HPO term]
- Sensorineural hearing impairment [HPO term]
- Small bowel diverticula [HPO term]
- Tachycardia [HPO term]
ORDO concept(s)
- Deafness-small bowel diverticulosis-neuropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) [SNOMED CT concept]
- Deafness-small bowel diverticulosis-neuropathy syndrome [ORDO Disease]
- Groll Hirschowitz syndrome [MeSH concept]
- groll hirschowitz syndrome [MeSH Supplementary Concept]

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