DiseaseID 3650
先天性染色体病
group
NCI2016_02D:A disorder that results from a chromosomal abnormality.|MSH2017_2016_08_12:Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a wh
Relationship Network
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3650
- Core Entity Id
- 59880
- Source Entity Count
- 1
- Preferred Name
- Congenital Chromosomal Disease
- Name Cn
- 先天性染色体病
- Name Pinyin
- Xian Tian Xing Ran Se Ti Bing
- Name En
- Congenital Chromosomal Disease
- Name Latin
- Bilingual Status
- complete
- Disease Type
- group
- Umls Disease Type
- Congenital Abnormality
- Disgenet Type
- group
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Do Class
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Hpo Class Name
- Do Class Name
- Disease Definition
- NCI2016_02D:A disorder that results from a chromosomal abnormality.|MSH2017_2016_08_12:Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)|CSP2006:clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material, either a whole chromosome or a chromosome segment.
- Version
- v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Congenital Chromosomal Disease
Role
preferred
Name
Autosomal Chromosome Disorders
Role
preferred
Name
Chromosomal Abnormality, Unspecified
Role
alias
Name
Chromosomal Disorders
Role
alias
Name
Chromosome Disorders
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS000577HBDIS012574
Me Sh
D025063
Umls
C0008626
Icd10
Q99.9
Sym Map
SMDE07442
Dis Ge Net
C0008626C0969687
Umls Sty
T019T047
Me Sh Class
C16
Tcmbank Disease
206318257
Attributes
Merged source attributes and domain-specific metadata.
Version
v2
Suppress
0
Disease Type
group
Umls Disease Type
Congenital AbnormalityDisease or Syndrome; Congenital Abnormality
Disease Definition
NCI2016_02D:A disorder that results from a chromosomal abnormality.|MSH2017_2016_08_12:Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)|CSP2006:clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material, either a whole chromosome or a chromosome segment.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Dis Ge Net Disease Type
group
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Umls Semantic Type Name
Congenital AbnormalityDisease or Syndrome; Congenital Abnormality