DiseaseID 26523
尺骨和腓骨缺失伴重度肢体缺陷
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
SNOMEDCT_US_2016_09_01:Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with p
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26523
- Core Entity Id
- 119091
- Source Entity Count
- 1
- Preferred Name
- Ulna And Fibula, Absence Of, With Severe Limb Deficiency
- Name Cn
- 尺骨和腓骨缺失伴重度肢体缺陷
- Name Pinyin
- Chi Gu He Fei Gu Que Shi Ban Zhong Du Zhi Ti Que Xian
- Name En
- Ulna And Fibula, Absence Of, With Severe Limb Deficiency
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C1848651
Sym Map
SMDE03917
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:Skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. Only a few cases have been described. Patients have intercalary limb deficiencies (phocomelia sometimes combined with polydactyly, oligodactyly or ectrodactyly), absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia) and skull defects. Additional features may include thoracic dystrophy, unusual facies (dysplastic and large ears, and a high and narrow palate), and genital malformations.Growth and mental development are normal.