Cardioneuromyopathy with hyaline masses and nemaline rods

Preferred Label : Cardioneuromyopathy with hyaline masses and nemaline rods;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Isolated cases;

Prefixed ID : %606842;

Details

Origin ID

606842;

UMLS CUI

C1847387;

Currated CISMeF NLP mapping
- cardioneuromyopathy with hyaline masses and nemaline rods [MeSH concept]
- cardioneuromyopathy with hyaline masses and nemaline rods [MeSH Supplementary Concept]
HPO term(s)
- Areflexia [HPO term]
- Cardiomyopathy [HPO term]
- Cervical vertebral bodies with decreased anteroposterior diameter [HPO term]
- Distal sensory impairment [HPO term]
- Dyspnea [HPO term]
- Fusion of midcervical facet joints [HPO term]
- Global systolic dysfunction [HPO term]
- Hyporeflexia [HPO term]
- Isolated cases [HPO term]
- Limb muscle weakness [HPO term]
- Limitation of neck motion [HPO term]
- Nemaline bodies [HPO term]
- Respiratory insufficiency [HPO term]
- Sporadic [HPO term]
- Widening of cervical spinal canal [HPO term]
- progressive respiratory failure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cardioneuromyopathy with hyaline masses and nemaline rods [MeSH Supplementary Concept]
- cardioneuromyopathy with hyaline masses and nemaline rods [MeSH concept]

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