DiseaseID 26472

剥脱性骨软骨炎、身材矮小和早发性骨关节炎

Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis

SNOMEDCT_US_2016_09_01:A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles an

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Disease: 1Target: 4Links: 4
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Record Fields

Scalar fields from the final disease record.

Disease Id
26472
Core Entity Id
119040
Source Entity Count
1
Preferred Name
Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis
Name Cn
剥脱性骨软骨炎、身材矮小和早发性骨关节炎
Name Pinyin
Bao Tuo Xing Gu Ruan Gu Yan 、 Shen Cai Ai Xiao He Zao Fa Xing Gu Guan Jie Yan
Name En
Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis
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:A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis
Role
preferred
Source
SymMap_v2
Preferred
Yes

Cross References

Trusted external identifiers retained for this final record.

Umls
C3665488
Sym Map
SMDE03643

Attributes

Merged source attributes and domain-specific metadata.

Version
v1
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.