DiseaseID 4206
血管性水肿
disease
NCI2016_02D:Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the
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Disease: 1Herb: 2Symptom: 12Target: 24Links: 38
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4206
- Core Entity Id
- 60520
- Source Entity Count
- 1
- Preferred Name
- Angioedema
- Name Cn
- 血管性水肿
- Name Pinyin
- Xue Guan Xing Shui Zhong
- Name En
- Angioedema
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Immune System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of metabolism/homeostasis; Abnormality of the integument; Abnormality of the cardiovascular system
- Mesh Class Name
- Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasis; Abnormality of the integument; Abnormality of the cardiovascular system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- NCI2016_02D:Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated.|MSH2017_2016_08_12:Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Angioedema
Role
preferred
Name
Angioedema, Hereditary, Type I
Role
preferred
Name
Hereditary Angioedema Type I
Role
preferred
Name
Hereditary Angioedema Type Ii
Role
preferred
Name
Hereditary Angioedema Types I And Ii
Role
preferred
Name
Angioedemas, Hereditary
Role
preferred
Name
Hereditary Angioedema Type III
Role
preferred
Name
ANGIOEDEMA, HEREDITARY, TYPE II
Role
alias
Name
ANGIONEUROTIC EDEMA, HEREDITARY
Role
alias
Name
Angioedema, Hereditary, Type Iii
Role
alias
Name
Angioneurotic Oedema
Role
alias
Name
Angiooedema
Role
alias
Name
C1 ESTERASE INHIBITOR, DEFICIENCY OF
Role
alias
Name
HAE1
Role
alias
Name
HAE2
Role
alias
Name
HANE
Role
alias
Name
Hereditary Angioedema
Role
alias
Name
Quincke Edema
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0100665
Herb
HBDIS000178HBDIS001348HBDIS017466HBDIS017989HBDIS019678HBDIS019679
Me Sh
D000799D054179D056828D056829
Omim
106100610618
Umls
C0002994C0019243C1862892C2717905C2717906
Icd10
T78.3
Sym Map
SMDE05078SMDE05882SMDE05883SMDE09404SMDE09405SMDE09406
Do Class
DOID:7
Dis Ge Net
C0002994C0019243C1857728C1862892C2717905C2717906
Umls Sty
T046T047
Hpo Class
HP:0001574HP:0001626HP:0001939
Me Sh Class
C14C16C17C20
Etcm Disease
Angioedema, Hereditary, Type I
Tcmbank Disease
10345146932513527589291843005671028032
Itcmdb Generated
ITX-DISEASE-070703964C3EITX-DISEASE-528125E409F6ITX-DISEASE-6F88D40CA60CITX-DISEASE-7578A57E4B05ITX-DISEASE-9E5B4CB7C719ITX-DISEASE-D77708EF6051
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Page Title
Disease Angioedema, Hereditary, Type I Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the integument; Abnormality of the cardiovascular system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormality of the integument; Abnormality of the cardiovascular system
Umls Disease Type
Disease or SyndromePathologic Function
Basic Information
Disease Name
Angioedema, Hereditary, Type I
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Gastrointestinal Diseases;Immune diseases;Oral diseases;Skin diseases
Disease Definition
NCI2016_02D:Autosomal dominant inherited disorders characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites. In type I hereditary angioedema, the plasma levels of C1 inhibitor are decreased. In type II hereditary angioedema, the C1 inhibitor is dysfunctional and its plasma levels may be normal or elevated.|MSH2017_2016_08_12:Forms of hereditary angioedema that occur due to mutations in the gene for COMPLEMENT C1 INHIBITOR PROTEIN. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.NCI2016_NICHD_1602D:Rapid swelling of the deep layers of the skin due to transient vascular leakage of serous fluid.|NCI2016_02D:Rapid swelling of the deep layers of the skin due to transient vascular leakage of serous fluid.(NICHD)|MSH2017_2016_08_12:Swelling involving the deep DERMIS, subcutaneous, or submucosal tissues, representing localized EDEMA. Angioedema often occurs in the face, lips, tongue, and larynx.|HPO2016_07_04:Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. [HPO:sdoelken]|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes|CHV2011_02:Recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranesSNOMEDCT_US_2016_09_01:Inherited form of angioedema caused by decreased levels or function of C1 inhibitor or other mechanisms leading to increased levels of bradykinin|NCI2016_02D:Autosomal dominant inherited disorder characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites.|MSH2017_2016_08_12:Inherited disorders that are characterized by subcutaneous and submucosal EDEMA in the upper RESPIRATORY TRACT and GASTROINTESTINAL TRACT.|CSP2006:recurring attacks of transient edema suddenly appearing in areas of the skin or mucous membranes and occasionally of the viscera, often associated with dermatographism, urticaria, erythema, and purpura.
Me Sh Disease Class
Cardiovascular Diseases; Immune System Diseases; Skin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Skin and Connective Tissue Diseases; Immune System Diseases
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases
Umls Semantic Type Name
Disease or SyndromePathologic Function