DiseaseID 10096
脑静脉血管瘤
disease
SNOMEDCT_US_2016_09_01:A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such
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Disease: 1Formula: 12Herb: 8Symptom: 5Target: 22Links: 49
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 10096
- Core Entity Id
- 67259
- Source Entity Count
- 1
- Preferred Name
- Cerebral Venous Angioma
- Name Cn
- 脑静脉血管瘤
- Name Pinyin
- Nao Jing Mai Xue Guan Liu
- Name En
- Cerebral Venous Angioma
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesCardiovascular Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsMental Disorders; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the nervous system; Abnormality of the cardiovascular system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
- Hpo Class Name
- Abnormality of the nervous system; Abnormality of the cardiovascular system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- SNOMEDCT_US_2016_09_01:A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.|SNOMEDCT_US_2016_09_01:A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Cerebral Venous Angioma
Role
preferred
Name
Cerebral Cavernous Malformations 2
Role
preferred
Name
Cerebral Cavernous Malformations 3
Role
preferred
Name
Familial Cerebral Cavernous Malformation
Role
preferred
Name
Congenital Malformation of Cerebral Vessels Nos
Role
preferred
Name
Nonruptured Congenital Cerebral Aneurysm
Role
preferred
Name
Other Malformations of Cerebral Vessels
Role
preferred
Name
CCM2
Role
alias
Name
CCM3
Role
alias
Name
Cerebral Cavernous Malformation 2
Role
alias
Name
Cerebral Cavernous Malformation 3
Role
alias
Name
Developmental Venous Anomaly
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0012481
Herb
HBDIS009714HBDIS018073HBDIS018074HBDIS018580HBDIS020107HBDIS020108HBDIS020265
Me Sh
D020787
Omim
603284603285
Umls
C1864040C1864041C2931263
Icd10
Q28.3
Sym Map
SMDE01957SMDE04036SMDE08630
Do Class
DOID:7
Dis Ge Net
C0478007C1864040C1864041C1956261C2910157C2910158C2931263
Umls Sty
T019T047T191
Hpo Class
HP:0000707HP:0001626
Me Sh Class
C04C05C07C10C14C15C16C23F01F03
Etcm Disease
Cerebral Cavernous Malformations 2Cerebral Cavernous Malformations 3
Tcmbank Disease
1074712402139321877920927256431174
Itcmdb Generated
ITX-DISEASE-390BA1C78E88ITX-DISEASE-7E7F9A804E3E
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2v2
Suppress
0
Page Title
Disease Cerebral Cavernous Malformations 2 Details pageDisease Cerebral Cavernous Malformations 3 Details page
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system; Abnormality of the cardiovascular system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the nervous system; Abnormality of the cardiovascular system
Umls Disease Type
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityNeoplastic Process
Basic Information
Disease Name
Cerebral Cavernous Malformations 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Neuronal diseases
Disease Name
Cerebral Cavernous Malformations 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A rare evolutive vascular malformation disorder characterized by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.|SNOMEDCT_US_2016_09_01:A rare evolutive vascular malformation disorder characterised by closely clustered irregular dilated capillaries that can be asymptomatic or that can cause variable neurological manifestations such as seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral haemorrhages. To date, mutations in three genes have been demonstrated; KRIT1, CCM2 and PDCD10, located on chromosome 7q21.2, 7p13, and 3q26.1 respectively, which encode proteins that, among their various functions, modulate junction formation between vascular endothelial cells. Transmitted as an autosomal dominant trait with incomplete penetrance.
Me Sh Disease Class
Cardiovascular Diseases; Neoplasms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic DiseasesCardiovascular Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; NeoplasmsMental Disorders; Stomatognathic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
Umls Semantic Type Name
Congenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital AbnormalityNeoplastic Process