DiseaseID 3893
额部脑膨出
disease
NCI2016_02D:A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.|MSH2017_2016_08_12:B
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Disease: 1Symptom: 2Target: 20Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3893
- Core Entity Id
- 60158
- Source Entity Count
- 1
- Preferred Name
- Frontal Encephalocele
- Name Cn
- 额部脑膨出
- Name Pinyin
- E Bu Nao Peng Chu
- Name En
- Frontal Encephalocele
- 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 Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- Hpo Class
- Abnormality of head or neck; Abnormality of the skeletal systemAbnormality of head or neck; Abnormality of the skeletal system; Abnormality of the nervous system
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; 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; Abnormality of head or neck; Abnormality of the skeletal system
- Do Class Name
- Disease Definition
- NCI2016_02D:A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.|MSH2017_2016_08_12:Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.|HPO2016_07_04:A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. [HPO:probinson]|HPO2016_07_04:A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. [HPO:probinson] {name="PMID:24931720"}
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Frontal Encephalocele
Role
preferred
Name
Congenital Cerebral Hernia
Role
preferred
Name
Hernia of Cerebellar Tonsil Into Foramen Magnum
Role
preferred
Name
Occipital Encephalocele
Role
preferred
Name
Cephalocele
Role
alias
Name
Cerebellar Hernia
Role
alias
Name
Encephalocele
Role
alias
Name
Occipital Meningoencephalocele
Role
alias
Name
Posterior Encephalocele
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002085HP:0007330HP:0011815
Herb
HBDIS000913HBDIS000914HBDIS008745HBDIS009316
Me Sh
D004677
Umls
C0014065
Icd10
Q01.0Q01.2
Sym Map
SMDE07441
Dis Ge Net
C0014065C0014067C0393983C0431289
Umls Sty
T019T020
Hpo Class
HP:0000152HP:0000707HP:0000924
Me Sh Class
C10C16C23
Etcm Disease
Frontal Encephalocele
Tcmbank Disease
234812603628689986
Itcmdb Generated
ITX-DISEASE-DC71239DA46C
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Frontal Encephalocele Details page
Disease Type
disease
Hpo Class Name
Abnormality of head or neck; Abnormality of the skeletal systemAbnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system
Hpo Disease Class
Abnormality of head or neck; Abnormality of the skeletal systemAbnormality of head or neck; Abnormality of the skeletal system; Abnormality of the nervous system
Umls Disease Type
Acquired AbnormalityCongenital Abnormality
Basic Information
Disease Name
Frontal Encephalocele
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases;Smell/Taste diseases
Disease Definition
NCI2016_02D:A congenital neural tube closure defect resulting in the protrusion of the brain through a skull opening. When the protrusion includes the meninges, the term encephalomeningocele is used.|MSH2017_2016_08_12:Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.|HPO2016_07_04:A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. [HPO:probinson]|HPO2016_07_04:A congenital defect in the skull, whereby there is a protrusion of part of the cranial contents through a congenital defect in the cranium, usually covered with skin or mucous membrane. The term encephalocele refers to a subclass of these lesions in which brain tissue protrudes through the defect. [HPO:probinson] {name="PMID:24931720"}
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Umls Semantic Type Name
Acquired AbnormalityCongenital Abnormality