Necrotizing encephalomyelopathy, subacute, of leigh, adult

Preferred Label : Necrotizing encephalomyelopathy, subacute, of leigh, adult;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Leigh syndrome, adult;

Inheritance : Autosomal dominant;

Prefixed ID : 161700;

Details

Origin ID

161700;

UMLS CUI

C1834340;

Automatic exact mappings (from CISMeF team)
- Mitochondrial DNA-associated Leigh syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- necrotizing encephalomyelopathy, subacute, of leigh, adult [MeSH concept]
- necrotizing encephalomyelopathy, subacute, of leigh, adult [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the cardiovascular system [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bone pain [HPO term]
- Clubbing [HPO term]
- Coarse facial features [HPO term]
- Cutis gyrata of scalp [HPO term]
- Foot acroosteolysis [HPO term]
- Gastric hypertrophy [HPO term]
- Gastric ulcer [HPO term]
- Hyperhidrosis [HPO term]
- Metacarpal periosteal thickening [HPO term]
- Metatarsal periosteal thickening [HPO term]
- Onychogryposis [HPO term]
- Osteolytic defects of the phalanges of the hand [HPO term]
- Periosteal thickening of long tubular bones [HPO term]
- Proximal phalangeal periosteal thickening [HPO term]
- Ptosis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- necrotizing encephalomyelopathy, subacute, of leigh, adult [MeSH Supplementary Concept]
- necrotizing encephalomyelopathy, subacute, of leigh, adult [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients