DiseaseID 3342
肛门闭锁
disease
NCI2016_CDISC_1602D:Absence or closure of the anal opening. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise L
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Disease: 1Symptom: 1Target: 22Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3342
- Core Entity Id
- 59536
- Source Entity Count
- 1
- Preferred Name
- Anus, Imperforate
- Name Cn
- 肛门闭锁
- Name Pinyin
- Gang Men Bi Suo
- Name En
- Anus, Imperforate
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- disease
- Mesh Class
- Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- disease of anatomical entity; physical disorder
- Hpo Class
- Abnormality of the digestive system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
- Hpo Class Name
- Abnormality of the digestive system
- Do Class Name
- disease of anatomical entity; physical disorder
- Disease Definition
- NCI2016_CDISC_1602D:Absence or closure of the anal opening. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.|MSH2017_2016_08_12:A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.|HPO2016_07_04:Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [HPO:probinson]
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Anus, Imperforate
Role
preferred
Name
Anal Atresia
Role
alias
Name
Imperforate Anus
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0002023
Herb
HBDIS000203
Me Sh
D001006
Omim
207500301800
Umls
C0003466
Icd10
Q42.3
Sym Map
SMDE05969
Do Class
DOID:0080015DOID:7
Dis Ge Net
C0003466
Umls Sty
T019
Hpo Class
HP:0025031
Me Sh Class
C06C16
Etcm Disease
Anus, Imperforate
Tcmbank Disease
4229
Itcmdb Generated
ITX-DISEASE-FC7D24647D1A
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Page Title
Disease Anus, Imperforate Details page
Do Class Name
disease of anatomical entity; physical disorder
Disease Type
disease
Hpo Class Name
Abnormality of the digestive system
Do Disease Class
disease of anatomical entity; physical disorder
Hpo Disease Class
Abnormality of the digestive system
Umls Disease Type
Congenital Abnormality
Basic Information
Disease Name
Anus, Imperforate
Global Category
Fetal diseases;Rare diseases
Anatomical Category
Gastrointestinal Diseases
Disease Definition
NCI2016_CDISC_1602D:Absence or closure of the anal opening. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.)|NCI2016_02D:A congenital birth defect characterized by the absence of a normal anal opening. It may be associated with other congenital abnormalities.|MSH2017_2016_08_12:A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME.|HPO2016_07_04:Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. [HPO:probinson]
Me Sh Disease Class
Digestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
Umls Semantic Type Name
Congenital Abnormality