DiseaseID 2241
脑积水
disease
HPO2016_07_04:Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventr
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Disease: 1Formula: 18Symptom: 12Target: 23Links: 54
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 2241
- Core Entity Id
- 2523
- Source Entity Count
- 1
- Preferred Name
- Hydrocephalus
- Name Cn
- 脑积水
- Name Pinyin
- Nao Ji Shui
- Name En
- Hydrocephalus
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Acquired Abnormality
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
- Hpo Class Name
- Abnormality of the nervous system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- HPO2016_07_04:Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. [HPO:curators]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hydrocephalus
Role
preferred
Name
Aqueductal Stenosis
Role
preferred
Name
Cerebral Ventriculomegaly
Role
preferred
Name
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Role
preferred
Name
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Role
preferred
Name
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
Role
preferred
Name
Hydrocephalus, X-Linked, With Congenital Idiopathic Intestinal Pseudoobstruction
Role
preferred
Name
Acquired Communicating Hydrocephalus
Role
preferred
Name
Communicating Hydrocephalus
Role
preferred
Name
Congenital Hydrocephalus
Role
preferred
Name
Congenital Stenosis of Aqueduct of Sylvius
Role
preferred
Name
External Hydrocephalus
Role
preferred
Name
Fetal Cerebral Ventriculomegaly
Role
preferred
Name
HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES
Role
preferred
Name
Hydrocephalus Ex-Vacuo
Role
preferred
Name
Obstructive Hydrocephalus
Role
preferred
Name
Post-Traumatic Hydrocephalus
Role
preferred
Name
X-Linked Hydrocephalus Syndrome
Role
preferred
Name
AQUEDUCTAL STENOSIS, X-LINKED
Role
alias
Name
Aqueduct Stenosis
Role
alias
Name
Aqueduct of Sylvius Stenosis
Role
alias
Name
Bickers-Adams Syndrome
Role
alias
Name
Congenital Hydrocephalus, Unspecified
Role
alias
Name
HSAS
Role
alias
Name
HSAS1
Role
alias
Name
HYC1
Role
alias
Name
HYCX
Role
alias
Name
HYDROCEPHALUS, X-LINKED
Role
alias
Name
HYDROCEPHALY
Role
alias
Name
Hydrocephalus, Congenital, 1
Role
alias
Name
Hydrocephalus, Unspecified
Role
alias
Name
Narrowing of Aqueduct of Sylvius
Role
alias
Name
Noncommunicating Hydrocephalus
Role
alias
Name
Nonsyndromal Hydrocephalus
Role
alias
Name
Post-Traumatic Hydrocephalus, Unspecified
Role
alias
Name
Too Much Cerebrospinal Fluid In The Brain
Role
alias
Name
VENTRICULOMEGALY
Role
alias
Name
Ventriculomegaly, Cerebral
Role
alias
Name
X-linked Acqueductal Stenosis
Role
alias
Name
X-linked HSAS
Role
alias
Name
X-linked Hydrocephalus
Role
alias
Name
X-linked Hydrocephalus With Stenosis Of Aqueduct Of Sylvius
Role
alias
Name
XLAS
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0000238HP:0001334HP:0002410HP:0010953
Herb
HBDIS000633HBDIS001410HBDIS001411HBDIS005754HBDIS006008HBDIS006482HBDIS007688HBDIS009321HBDIS009703HBDIS010134HBDIS014481HBDIS020427HBDIS020435HBDIS021896HBDIS022724HBDIS028857
Me Sh
D006849
Omim
236600236635307000615219
Umls
C0020255C0265216C1531647C1844006C2936786C3887608
Icd10
G91G91.0G91.1G91.3G91.9Q03Q03.0Q03.9
Sym Map
SMDE00344SMDE01227SMDE01251SMDE06011SMDE06898SMDE09566SMDE09571
Do Class
DOID:7
Dis Ge Net
C0009451C0020255C0020256C0265216C0266476C0270720C0338593C0431357C0477432C0549423C1531647C1844006C2936718C2936786C3554691C3887608
Orphanet
2182
Umls Sty
T019T020T033T047
Hpo Class
HP:0000707
Me Sh Class
C06C10C16
Etcm Disease
Congenital HydrocephalusHydrocephalus with Stenosis of the Aqueduct of SylviusHydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies
Tcmbank Disease
1266215209176211794222504265612663727671306353121546467321834685698932900
Itcmdb Generated
ITX-DISEASE-255999C826BFITX-DISEASE-6897E1D39058ITX-DISEASE-8B53A2A94652ITX-DISEASE-990D815EC468ITX-DISEASE-B6C55F577A09ITX-DISEASE-C24D6FFD2D6CITX-DISEASE-E2D5C54C12C5
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Congenital Hydrocephalus Details pageDisease Hydrocephalus with Stenosis of the Aqueduct of Sylvius Details pageDisease Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of the nervous system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Acquired AbnormalityCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFinding
Basic Information
Disease Name
Congenital Hydrocephalus
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Neuronal diseases
Disease Name
Hydrocephalus with Stenosis of the Aqueduct of Sylvius
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Hydrocephalus, Congenital, 2, with or Without Brain or Eye Anomalies
Global Category
Genetic diseases
Anatomical Category
Neuronal diseases
Disease Definition
HPO2016_07_04:Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. [HPO:curators]Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this teMSH2017_2016_08_12:Enlargement of CEREBRAL VENTRICLES. Although it is often isolated without other CNS anomalies it can be associated with other congenital malformations (e.g., ARNOLD-CHIARI MALFORMATION; DANDY-WALKER MALFORMATION, and ACROCALLOSAL SYNDROME).NCI2016_NICHD_1602D:An abnormal accumulation of cerebrospinal fluid within the ventricles of the brain.|NCI2016_NCI-GLOSS_1602D:The abnormal buildup of cerebrospinal fluid in the ventricles of the brain.|NCI2016_CTCAE_1602D:A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.|NCI2016_CDISC_1602D:An enlargement of the ventricles relative to brain tissue.|NCI2016_02D:A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain.|MSH2017_2016_08_12:Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, INTRACRANIAL HYPERTENSION; HEADACHE; lethargy; URINARY INCONTINENCE; and ATAXIA.|MEDLINEPLUS_20151021:<p>Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your brain. When you have too much, though, it puts harmful pressure on your brain.</p> <p>Hydrocephalus can be congenital, or present at birth. Causes include genetic problems and problems with how the fetus develops. An unusually large head is the main sign of congenital hydrocephalus.</p> <p>Hydrocephalus can also happen after birth. This is called acquired hydrocephalus. It can occur at any age. Causes can include head injuries, strokes, infections, tumors, and bleeding in the brain. Symptoms include</p> <ul> <li>Headache</li> <li>Vomiting and nausea</li> <li>Blurry vision</li> <li>Balance problems</li> <li>Bladder control problems</li> <li>Thinking and memory problems</li> </ul> <p>Hydrocephalus can permanently damage the brain, causing problems with physical and mental development. If untreated, it is usually fatal. With treatment, many people lead normal lives with few limitations. Treatment usually involves surgery to insert a shunt. A shunt is a flexible but sturdy plastic tube. The shunt moves the cerebrospinal fluid to another area of the body where it can be absorbed. Medicine and rehabilitation therapy can also help.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|HPO2016_07_04:Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. [HPO:probinson, pmid:18211712, pmid:19410151]|CSP2006:excessive accumulation of cerebrospinal fluid within the cranium which may be a congenital or acquired disorder; hydrocephalus ex-vacuo refers to ventricular dilation that occurs as a result of brain substance loss from cerebral infarction and other conditions.|CHV2011_02:excessive gathering of cerebrospinal fluid within the head bone|CHV2011_02:excessive gathering of cerebrospinal fluid within the head bone|CHV2011_02:excessive gathering of cerebrospinal fluid within the head bone|CHV2011_02:excessive gathering of cerebrospinal fluid within the head bone
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases
Umls Semantic Type Name
Acquired AbnormalityCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityFinding