JSON

Arnold-Chiari malformation type II

^ http://www.orpha.net/ORDO/Orphanet_1136


Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

Synonyms: Chiari malformation type 2, Chiari malformation type II, Arnold-Chiari malformation type 2

Term info

database cross reference
  • UMLS:C0750930 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0555206 (E (exact mapping (the terms and the concepts are equivalent)))
  • MedDRA:10056945 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:207950 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q07.0 (E (exact mapping (the terms and the concepts are equivalent)))
  • UMLS:C0003803 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q07.0 (Specific code (The term has its own code in the ICD10))
hasDbXref

OMIM:207950, UMLS:C0003803, ICD-10:Q07.0, UMLS:C0750930, MedDRA:10056945, UMLS:C0555206

notation

ORPHA:1136