Neuropathy, congenital, with arthrogryposis multiplex

Preferred Label : Neuropathy, congenital, with arthrogryposis multiplex;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal dominant;

Prefixed ID : %162370;

Details

Origin ID

162370;

UMLS CUI

C1834206;

Currated CISMeF NLP mapping
- Neuropathy, congenital, with arthrogryposis multiplex [MeSH concept]
- neuropathy, congenital, with arthrogryposis multiplex [MeSH Supplementary Concept]
HPO term(s)
- Areflexia of lower limbs [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Broad-based gait [HPO term]
- Calcaneovalgus deformity [HPO term]
- Congenital onset [HPO term]
- Congenital peripheral neuropathy [HPO term]
- Delayed ability to walk [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Hyperlordosis [HPO term]
- Hyporeflexia of lower limbs [HPO term]
- Nonprogressive [HPO term]
- Proximal muscle weakness [HPO term]
- Spasticity [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neuropathy, congenital, with arthrogryposis multiplex [MeSH concept]
- neuropathy, congenital, with arthrogryposis multiplex [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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