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Arnold Chiari Malformation (CUI C0003803) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0003803

NCI Thesaurus Code: C84570  (see NCI Thesaurus info)

Semantic Type: Disease or Syndrome

Semantic Type: Congenital Abnormality

NCIt Definition: A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.

GARD Definition: Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Treatment may require surgery. Many patients with the more severe types of Chiari malformations who undergo surgery see a reduction in their symptoms and/or prolonged periods of relative stability, however paralysis is generally permanent despite surgery.

There are four types of Chiari malformations. The types tend to correspond with the degree of severity, with type 1 being the most common and least severe. Some people with type 1 have no symptoms and do not require treatment.

Chiari malformation type 1
Chiari malformation type 2
Chiari malformation type 3
Chiari malformation type 4

- this information is from GARD/ORDR/NCATS.

MEDLINEPLUS Definition: 

Chiari malformations (CMs) are structural defects in the cerebellum. The cerebellum is the part of the brain that controls balance. With CM, brain tissue extends into the spinal canal. It can happen when part of the skull is too small, which pushes the brain tissue down. There are several types of CM. Some cause no symptoms and don't need treatment. If you have symptoms, they may include

  • Neck pain
  • Balance problems
  • Numbness or other abnormal feelings in the arms or legs
  • Dizziness
  • Vision problems
  • Difficulty swallowing
  • Poor hand coordination

Doctors diagnose CM using imaging tests. Medicines may ease some symptoms, such as pain. Surgery is the only treatment available to correct or stop the progression of nerve damage.

NIH: National Institute of Neurological Disorders and Stroke

HPO Definition: Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. [HPO:curators]

MSH Definition: A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)

Synonyms & Abbreviations: (see Synonym Details)
(Arnold) Chiari Malformation
Arnola-Chiari malformation
Arnold Chiari Deformity
ARNOLD CHIARI MALFORMATION
Arnold Chiari Syndrome
Arnold-Chiari Deformity
Arnold-Chiari Malformation [Disease/Finding]
Arnold-Chiari malformations
Arnold-Chiari malformation
ARNOLD-CHIARI SYNDROME
CEREBELLOMEDULLARY MALFORMATION SYNDROME
Chiari malformation (disorder)
Chiari malformation
chiari
Deformity, Arnold-Chiari
hindbrain hernia
Malformation, Arnold Chiari
Malformation, Arnold-Chiari
Syndrome, Arnold-Chiari

External Source Codes: 
NCI Thesaurus Code C84570 (see NCI Thesaurus info)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN do not confuse with CHIARI'S SYNDROME see BUDD-CHIARI SYNDROME MSH
AQL BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000017005 SNOMEDCT_US
CITE Playbook RADLEX
Contributing_Source NICHD NCI
CTV3ID X77rk SNOMEDCT_US
DATE_CREATED 10/21/2013 MEDLINEPLUS
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 17123 GARD
DISEASE_IDENTIFIER_ID 17124 GARD
DX 19660101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
EXCLUDES1 Arnold-Chiari syndrome, type III (Q01.-) ICD10CM
EXCLUDES1 Arnold-Chiari syndrome, type IV (Q04.8) ICD10CM
HAS_GARD_PAGE true GARD
HN 2000(1963) MSH
IAN DEFAULT ICD10
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE false GARD
IS_SPANISH false GARD
LAST_REVIEW_DATE 2010-02-09T00:00:00 GARD
MDA 19990101 MSH
MESH_DEFINITION A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46) NDFRT
MESH_DUI D001139 NDFRT
MESH_NAME Arnold-Chiari Malformation NDFRT
MESH_UI M0001704 NDFRT
MMR 20140613 MSH
MN C10.500.680.291 MSH
MN C16.131.666.680.291 MSH
MP_HEALTH_TOPIC_URL https://www.nlm.nih.gov/medlineplus/chiarimalformation.html MEDLINEPLUS
MP_OTHER_LANGUAGE_URL Spanish https://www.nlm.nih.gov/medlineplus/spanish/chiarimalformation.html MEDLINEPLUS
MP_PRIMARY_INSTITUTE_URL National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/ MEDLINEPLUS
NDFRT_KIND DISEASE_KIND NDFRT
NICHD_Hierarchy_Term Arnold-Chiari Malformation NCI
NUI N0000000467 NDFRT
ORDER_NO 27304 ICD10CM
PM 2000; see ARNOLD-CHIARI DEFORMITY 1963-1999; for ARNOLD-CHIARI MALFORMATION see ARNOLD-CHIARI DEFORMITY 1963-1999 MSH
PRIMARY_PATH 10003101$10052633$10029299$10010331$Arnold-Chiari malformation$Cerebellar disorders congenital$Neurological disorders congenital$Congenital, familial and genetic disorders MDR
PRIMARY_SOC 10010331 MDR
PT_IN_VERSION 10.0 MDR
PT_IN_VERSION 10.1 MDR
PT_IN_VERSION 11.0 MDR
PT_IN_VERSION 11.1 MDR
PT_IN_VERSION 12.0 MDR
PT_IN_VERSION 12.1 MDR
PT_IN_VERSION 13.0 MDR
PT_IN_VERSION 13.1 MDR
PT_IN_VERSION 14.0 MDR
PT_IN_VERSION 14.1 MDR
PT_IN_VERSION 15.0 MDR
PT_IN_VERSION 15.1 MDR
PT_IN_VERSION 16.0 MDR
PT_IN_VERSION 16.1 MDR
PT_IN_VERSION 17.0 MDR
PT_IN_VERSION 17.1 MDR
PT_IN_VERSION 18.0 MDR
PT_IN_VERSION 18.1 MDR
PT_IN_VERSION 19.0 MDR
PT_IN_VERSION 19.1 MDR
PT_IN_VERSION 8.0 MDR
PT_IN_VERSION 8.1 MDR
PT_IN_VERSION 9.0 MDR
PT_IN_VERSION 9.1 MDR
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/5845/chiari-malformation/resources/1 GARD
RXAUI 3111432 RXNORM
RXAUI 3111433 RXNORM
RXAUI 3111434 RXNORM
RXAUI 3111439 RXNORM
RXAUI 3196301 RXNORM
RXCUI 987108 RXNORM
SMQ_TERM_ADDVERSION 10.0 MDR
SMQ_TERM_CAT A MDR
SMQ_TERM_LEVEL 4 MDR
SMQ_TERM_LEVEL 5 MDR
SMQ_TERM_LMVERSION 14.0 MDR
SMQ_TERM_SCOPE 2 MDR
SMQ_TERM_STATUS A MDR
SMQ_TERM_WEIGHT 0 MDR
SNOMED_CID 253184003 NDFRT
SNOMEDID D4-90061 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS Q07.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~Q07.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS Q07.00 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF CHIARI MALFORMATION TYPE I CHOOSE G93.5 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF CHIARI MALFORMATION TYPE III CHOOSE Q01.2 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF CHIARI MALFORMATION TYPE IV CHOOSE Q04.8 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF CLOSED SPINA BIFIDA WITH ARNOLD-CHIARI MALFORMATION CHOOSE Q07.01 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~IF HYDROCEPHALUS DUE TO ARNOLD CHIARI MALFORMATION TYPE 2 CHOOSE Q07.02 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447639009 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~3 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~4 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~6 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 23931000119104 | Hydrocephalus due to Arnold Chiari malformation type 2 (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 253117002 | Closed spina bifida with Arnold-Chiari malformation (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 253185002 | Chiari malformation type I (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 253186001 | Chiari malformation type III (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~IFA 253187005 | Chiari malformation type IV (disorder) | SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~OTHERWISE TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~G93.5 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q01.2 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q04.8 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q07.00 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q07.01 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~Q07.02 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~X77rk SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D4-90061 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000549004 SNOMEDCT_US
TERMUI T003424 MSH
TERMUI T003425 MSH
TERMUI T365662 MSH
TERMUI T372011 MSH
TH NLM (1966) MSH
TH NLM (1991) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TH ORD (2010) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0003803

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