Chiari malformation type II
http://purl.obolibrary.org/obo/MONDO_0008816
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. [ Orphanet:1136 ]
Term info
- SCTID:373587001 (MONDO:equivalentTo)
- GARD:0009232 (MONDO:equivalentTo)
- Orphanet:1136 (OMIM:207950)
- OMIM:207950 (Orphanet:1136/e)
- MedDRA:10056945 (Orphanet:1136/e)
ordo_morphological_anomaly
http://identifiers.org/meddra/10056945
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.
http://identifiers.org/snomedct/373587001, http://purl.obolibrary.org/obo/Orphanet_1136, https://omim.org/entry/207950
Chiari malformation type 2, Arnold-Chiari malformation type II, Chiari malformation type II, Arnold-Chiari malformation type 2
Arnold-Chiari malformation, Arnold Chiari malformation type II, Chiari type II malformation, Cm2
MONDO:0008816