DiseaseID 3813
无颅畸形
disease
Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervou
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Disease: 1Formula: 1Herb: 1Symptom: 12Target: 24Links: 38
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3813
- Core Entity Id
- 60065
- Source Entity Count
- 1
- Preferred Name
- Acrania
- Name Cn
- 无颅畸形
- Name Pinyin
- Wu Lu Ji Xing
- Name En
- Acrania
- 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 head or neck; Abnormality of the skeletal systemAbnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
- Hpo Class Name
- Abnormality of head or neck; Abnormality of the skeletal systemAbnormality of the nervous system
- Do Class Name
- Disease Definition
- Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervou
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Acrania
Role
preferred
Name
Craniorachischisis
Role
preferred
Name
Neural Tube Defects
Role
preferred
Name
Spinal Cord Myelodysplasia
Role
preferred
Name
Diastematomyelia
Role
preferred
Name
Exencephaly
Role
preferred
Name
Iniencephaly
Role
preferred
Name
Neurenteric Cyst
Role
preferred
Name
Tethered Cord Syndrome
Role
preferred
Name
Abnormality of Neural Tube Closure
Role
alias
Name
Neural Tube Defect
Role
alias
Name
Occult Spinal Dysraphism
Role
alias
Name
Tethered Cord
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002144HP:0030716HP:0030725HP:0030769HP:0030770HP:0045005
Herb
HBDIS000793HBDIS002102HBDIS002105HBDIS003226HBDIS003700HBDIS003723HBDIS006000HBDIS008214HBDIS010714
Me Sh
D009436
Omim
222500
Umls
C0027794C0152426C0344479
Icd10
Q00.1Q00.2Q06.1Q06.2
Med Dra
10011321
Sym Map
SMDE01039SMDE11398SMDE13337
Dis Ge Net
C0011999C0027794C0027806C0080218C0152234C0152426C0266453C0344479C0702169
Orphanet
63260
Umls Sty
T019T047
Hpo Class
HP:0000152HP:0000707HP:0000924
Me Sh Class
C10C16
Etcm Disease
CraniorachischisisDiastematomyeliaIniencephaly
Tcmbank Disease
10547131131516174351806216432425948283585364
Itcmdb Generated
ITX-DISEASE-0204D2C1CE80ITX-DISEASE-51577AA566FAITX-DISEASE-9153507B6082ITX-DISEASE-C3C69BBCEB2DITX-DISEASE-C7A2A83CE0FEITX-DISEASE-C851389F3980
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Craniorachischisis Details pageDisease Diastematomyelia Details pageDisease Iniencephaly Details page
Disease Type
diseasegroup
Hpo Class Name
Abnormality of head or neck; Abnormality of the skeletal systemAbnormality of the nervous system
Hpo Disease Class
Abnormality of head or neck; Abnormality of the skeletal systemAbnormality of the nervous system
Umls Disease Type
Congenital AbnormalityDisease or Syndrome
Basic Information
Disease Name
Craniorachischisis
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Diastematomyelia
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Iniencephaly
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Definition
Craniorachischisis is the most severe form of neural tube defect in which both the brain and spinal cord remain open to varying degrees. It is a very rare congenital malformation of the central nervouNCI2016_02D:A congenital defect characterized by failure of the neural tube to close completely; this results in the presence of openings in the brain or spinal cord. Examples of neural tube defects include encephalocele and spina bifida.|MSH2017_2016_08_12:Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation. Ectodermal and mesodermal malformations (mainly involving the skull and vertebrae) may occur as a result of defects of neural tube closure. (From Joynt, Clinical Neurology, 1992, Ch55, pp31-41)|MEDLINEPLUS_20151021:<p>Neural tube defects are <a href='https://www.nlm.nih.gov/medlineplus/birthdefects.html'>birth defects</a> of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are <a href='https://www.nlm.nih.gov/medlineplus/spinabifida.html'>spina bifida</a> and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, <a href='https://www.nlm.nih.gov/medlineplus/chiarimalformation.html'>Chiari malformation</a>, causes the brain tissue to extend into the spinal canal.</p> <p>The exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you</p> <ul> <li>Are obese</li> <li>Have poorly controlled diabetes</li> <li>Take certain antiseizure medicines</li> </ul> <p>Getting enough <a href='https://www.nlm.nih.gov/medlineplus/folicacid.html'>folic acid</a>, a type of B vitamin, before and during pregnancy prevents most neural tube defects.</p> <p>Neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications.</p> <p >NIH: National Institute of Child Health and Human Development</p>|HPO2016_07_04:A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. [HPO:probinson, PMID:19808787]|HPO2016_07_04:A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. [HPO:probinson]
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome