DiseaseID 14446
血管球静脉畸形
disease
SNOMEDCT_US_2016_09_01:Hereditary vascular malformations featuring the presence of small, multifocal bluish-purple venous lesions involving the skin. May be present at birth, and slowly expand during childhood. New small
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Disease: 1Symptom: 1Target: 16Links: 25
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14446
- Core Entity Id
- 72231
- Source Entity Count
- 1
- Preferred Name
- Glomuvenous Malformations
- Name Cn
- 血管球静脉畸形
- Name Pinyin
- Xue Guan Qiu Jing Mai Ji Xing
- Name En
- Glomuvenous Malformations
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Neoplasms
- Do Class
- Hpo Class
- Mesh Class Name
- Neoplasms
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:Hereditary vascular malformations featuring the presence of small, multifocal bluish-purple venous lesions involving the skin. May be present at birth, and slowly expand during childhood. New small lesions appear with time. Often painful on palpation and cannot be completely emptied by compression. They are usually multifocal and are located mainly on the extremities, involving the skin and subcutis. Caused by mutations in the gene encoding glomulin and inherited in an autosomal dominant manner.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Glomuvenous Malformations
Role
preferred
Name
GLOMANGIOMAS, MULTIPLE
Role
alias
Name
GLOMUS TUMORS, MULTIPLE
Role
alias
Name
GVM
Role
alias
Name
Glomus Vagale Tumors
Role
alias
Name
VENOUS MALFORMATIONS WITH GLOMUS CELLS
Role
alias
Name
VMGLOM
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015896
Omim
138000
Umls
C1841984
Sym Map
SMDE05032
Dis Ge Net
C1841984
Umls Sty
T047
Me Sh Class
C04
Etcm Disease
Glomuvenous Malformations
Tcmbank Disease
14759
Itcmdb Generated
ITX-DISEASE-BE33E1ED7320
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Glomuvenous Malformations Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Glomuvenous Malformations
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:Hereditary vascular malformations featuring the presence of small, multifocal bluish-purple venous lesions involving the skin. May be present at birth, and slowly expand during childhood. New small lesions appear with time. Often painful on palpation and cannot be completely emptied by compression. They are usually multifocal and are located mainly on the extremities, involving the skin and subcutis. Caused by mutations in the gene encoding glomulin and inherited in an autosomal dominant manner.
Me Sh Disease Class
Neoplasms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Neoplasms
Umls Semantic Type Name
Disease or Syndrome