DiseaseID 26094
婴儿型纹状体黑质变性
Striatonigral Degeneration, Infantile
SNOMEDCT_US_2016_09_01:Comprises of several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and d
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Disease: 1Symptom: 3Target: 4Links: 7
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26094
- Core Entity Id
- 118662
- Source Entity Count
- 1
- Preferred Name
- Striatonigral Degeneration, Infantile
- Name Cn
- 婴儿型纹状体黑质变性
- Name Pinyin
- Ying Er Xing Wen Zhuang Ti Hei Zhi Bian Xing
- Name En
- Striatonigral Degeneration, Infantile
- 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:Comprises of several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Can be familial or sporadic. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection. Familial disease can be inherited as an autosomal recessive or mitochondrial disorder.|JABL99:Degeneration of the caudate nucleus, putamen, and sometimes globus pallidus associated with choreoathetosis, abnormal eye movements, seizures, and mental retardation. Symptoms usually appear after a severe infectious disease.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Striatonigral Degeneration, Infantile
Role
preferred
Source
SymMap_v2
Preferred
Yes
Cross References
Trusted external identifiers retained for this final record.
Umls
C0795996
Sym Map
SMDE01922
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Disease Definition
SNOMEDCT_US_2016_09_01:Comprises of several syndromes of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus with characteristics of developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis. Can be familial or sporadic. The familial form has an insidious onset and a slowly progressive downhill course, while the sporadic form is associated with abrupt neurologic dysfunction following an acute systemic febrile illness such as a mycoplasma, measles or streptococcus infection. Familial disease can be inherited as an autosomal recessive or mitochondrial disorder.|JABL99:Degeneration of the caudate nucleus, putamen, and sometimes globus pallidus associated with choreoathetosis, abnormal eye movements, seizures, and mental retardation. Symptoms usually appear after a severe infectious disease.