DiseaseID 2031
Arnold-Chiari畸形
disease
HPO2016_07_04:Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displace
Relationship Network
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Disease: 1Formula: 5Symptom: 12Target: 18Links: 41
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2031
- Core Entity Id
- 2284
- Source Entity Count
- 1
- Preferred Name
- Arnold Chiari Malformation
- Name Cn
- Arnold-Chiari畸形
- Name Pinyin
- Arnold-chiari Ji Xing
- Name En
- Arnold-Chiari Malformation
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Do Class
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- Disease Definition
- HPO2016_07_04:Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. [HPO:curators]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Arnold Chiari Malformation
Role
preferred
Name
Chiari Malformation Type Ii
Role
preferred
Name
Arnold-Chiari Malformation, Type I
Role
preferred
Name
Arnold-Chiari Malformation, Type Iii
Role
preferred
Name
Arnold-Chiari Malformation, Type Iv
Role
preferred
Name
Arnold Chiari Type I Malformation
Role
alias
Name
Arnold-Chiari Syndrome
Role
alias
Name
Chiari I Malformation
Role
alias
Name
Chiari Malformation
Role
alias
Name
Chiari Malformation Type I
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002308HP:0007099
Herb
HBDIS000232HBDIS010192HBDIS011091HBDIS028581HBDIS028582
Me Sh
D001139
Omim
118420207950
Umls
C0003803C0555206C0750929
Icd10
Q07.0
Sym Map
SMDE06022SMDE06023SMDE06959
Dis Ge Net
C0003803C0555206C0750929C0750931C0750932
Umls Sty
T019
Hpo Class
HP:0000707
Me Sh Class
C10C16
Etcm Disease
Chiari Malformation Type Ii
Tcmbank Disease
20537316615385
Itcmdb Generated
ITX-DISEASE-9174CAEF53DA
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Chiari Malformation Type Ii Details page
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Chiari Malformation Type Ii
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Definition
HPO2016_07_04:Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. [HPO:curators]NCI2016_02D:A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.|MSH2017_2016_08_12: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)|MEDLINEPLUS_20151021:<p>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</p> <ul> <li>Neck pain</li> <li>Balance problems</li> <li>Numbness or other abnormal feelings in the arms or legs</li> <li>Dizziness</li> <li>Vision problems</li> <li>Difficulty swallowing</li> <li>Poor hand coordination</li> </ul> <p>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.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|HPO2016_07_04: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]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Congenital Abnormality