DiseaseID 13199
心内膜垫缺损
disease
HPO2016_07_04:A defect of the atrioventricular septum of the heart. [HPO:probinson, pmid:12632326]
Relationship Network
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Disease: 1Formula: 17Herb: 12Symptom: 2Target: 20Links: 55
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 13199
- Core Entity Id
- 70803
- Source Entity Count
- 1
- Preferred Name
- Endocardial Cushion Defects
- Name Cn
- 心内膜垫缺损
- Name Pinyin
- Xin Nei Mo Dian Que Sun
- Name En
- Endocardial Cushion Defects
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Anatomical Abnormality
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity
- Hpo Class
- Abnormality of the cardiovascular system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
- Hpo Class Name
- Abnormality of the cardiovascular system
- Do Class Name
- disease of anatomical entity
- Disease Definition
- HPO2016_07_04:A defect of the atrioventricular septum of the heart. [HPO:probinson, pmid:12632326]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Endocardial Cushion Defects
Role
preferred
Name
Atrioventricular Canal Defect
Role
preferred
Name
Atrioventricular Septal Defect 3
Role
preferred
Name
Atrioventricular Septal Defect 4
Role
preferred
Name
Atrioventricular Septal Defect 5
Role
preferred
Name
Atrioventricular Septal Defect
Role
preferred
Name
Common Atrioventricular Canal
Role
preferred
Name
AVSD3
Role
alias
Name
AVSD4
Role
alias
Name
AVSD5
Role
alias
Name
Atrioventricular Canal
Role
alias
Name
Atrioventricular Canal Type Ventricular Septal Defect
Role
alias
Name
Complete Atrioventricular Canal Defect
Role
alias
Name
Complete Atrioventricular Septal Defect
Role
alias
Name
Complete Common Av Canal
Role
alias
Name
Endocardial Cushion Defect
Role
alias
Name
Inlet Ventricular Septal Defect
Role
alias
Name
Type 3 Ventricular Septal Defect
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001674HP:0006695HP:0011622
Herb
HBDIS000921HBDIS004597HBDIS014111HBDIS014112HBDIS021095HBDIS021344HBDIS021360
Me Sh
D004694
Omim
600309614430614474
Umls
C0014116C1389016C3275750C3280781C3280939
Icd10
Q21.2
Sym Map
SMDE03197SMDE04257SMDE05074SMDE06150SMDE08245
Do Class
DOID:7
Dis Ge Net
C0014116C0221215C1389016C1389018C3275750C3280781C3280939
Umls Sty
T019T047T190
Hpo Class
HP:0001626
Me Sh Class
C14C16
Etcm Disease
Atrioventricular Septal Defect 3Atrioventricular Septal Defect 4Atrioventricular Septal Defect 5
Tcmbank Disease
10276198822207224672815831431590
Itcmdb Generated
ITX-DISEASE-0DDBA4B2CEBAITX-DISEASE-52444BEEDB29ITX-DISEASE-A2CA54E4E878ITX-DISEASE-EE8DD9604680
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Atrioventricular Septal Defect 3 Details pageDisease Atrioventricular Septal Defect 4 Details pageDisease Atrioventricular Septal Defect 5 Details page
Do Class Name
disease of anatomical entity
Disease Type
diseasegroup
Hpo Class Name
Abnormality of the cardiovascular system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the cardiovascular system
Umls Disease Type
Anatomical AbnormalityCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital Abnormality
Basic Information
Disease Name
Atrioventricular Septal Defect 3
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Muscle diseases
Disease Name
Atrioventricular Septal Defect 4
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Muscle diseases
Disease Name
Atrioventricular Septal Defect 5
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Muscle diseases
Disease Definition
HPO2016_07_04:A defect of the atrioventricular septum of the heart. [HPO:probinson, pmid:12632326]MSH2017_2016_08_12:A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.
Me Sh Disease Class
Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Umls Semantic Type Name
Anatomical AbnormalityCongenital AbnormalityDisease or SyndromeDisease or Syndrome; Congenital Abnormality