Syringomyelia, noncommunicating isolated

Preferred Label : Syringomyelia, noncommunicating isolated;

Type : Phenotype or locus, molecular basis unknown;

Description : Syringomyelia (Greek: 'syrinx,' pipe, and 'myelos,' marrow) is a tubular cavity in the spinal cord. It can occur sporadically in association with spinal cord tumors, inflammatory arachnoiditis, or posttraumatically. It is rarely idiopathic (less than 1% of cases). The vast majority of cases of syringomyelia are cervical, noncommunicating, and associated with an abnormality at the foramen magnum, particularly the Chiari malformation type I (CM1; 118420), as well as basilar impression (109500) and Dandy-Walker malformation (220200) (Speer et al., 2003; Levine, 2004); these cases have shown familial segregation.;

Inheritance : Autosomal dominant;

Prefixed ID : %186700;

Details

Origin ID

186700;

UMLS CUI

C4538540;

Currated CISMeF NLP mapping
- Syringomelia [HRDO Sign]
- Syringomyelia [PASCAL descriptor]
- Syringomyelia [ORDO Disease]
- Syringomyelia [MedDRA Preferred Term]
- Syringomyelia [HPO term]
- Syringomyelia [NCIt concept]
- Syringomyelia (disorder) [SNOMED CT concept]
- syringomyelia [MeSH Descriptor]
- syringomyelia [Disease (Nov.)]
- syringomyelia [DO Concept]
- syringomyelia [MedlinePlus Topic]
- syringomyelia [SNOMED Notion]
- syringomyelia [MeSH concept]
- syringomyelia, isolated [MeSH concept]
- syringomyelia, isolated [MeSH Supplementary Concept]
DO Cross reference
- syringomyelia [DO Concept]
HPO term(s)
- Abnormal foramen magnum morphology [HPO term]
- Areflexia of upper limbs [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Chiari type I malformation [HPO term]
- Dysarthria [HPO term]
- Enlarged sagittal diameter of the cervical canal [HPO term]
- Gait ataxia [HPO term]
- Horner syndrome [HPO term]
- Limb muscle weakness [HPO term]
- Lower limb hyperreflexia [HPO term]
- Lower limb spasticity [HPO term]
- Neck pain [HPO term]
- Nystagmus [HPO term]
- Paresthesia [HPO term]
- Scoliosis [HPO term]
- Syringomyelia [HPO term]
- Unsteady gait [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Syringomyelia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- syringomyelia, isolated [MeSH Supplementary Concept]
- syringomyelia, isolated [MeSH concept]

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