Preferred Label : Chiari malformation type II;
CISMeF acronym : CM2;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Arnold-chiari malformation; CM2;
Description : Chiari malformation type II (CM2), also known as the Arnold-Chiari malformation, consists
of elongation and descent of the inferior cerebellar vermis, cerebellar hemispheres,
pons, medulla, and fourth ventricle through the foramen magnum into the spinal canal.
CM2 is uniquely associated with myelomeningocele (open spina bifida; see 182940) and
is found only in this population (Stevenson, 2004). It is believed to be a disorder
of neuroectodermal origin (Schijman, 2004). For a general phenotypic description of
the different forms of Chiari malformations, see Chiari malformation type I (CM1;
118420).;
Inheritance : Multifactorial;
Prefixed ID : %207950;
Origin ID : 207950;
UMLS CUI : C0555206;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- False automatic mappings
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
