DiseaseID 13990
黑色素瘤星形细胞瘤综合征
disease
SNOMEDCT_US_2016_09_01:An extremely rare tumour association characterised by dual predisposition to melanoma and neural system tumours (typically astrocytoma). Fewer than 20 affected families have been reported to date.
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Disease: 1Formula: 17Herb: 12Target: 20Links: 53
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 13990
- Core Entity Id
- 71713
- Source Entity Count
- 1
- Preferred Name
- Melanoma Astrocytoma Syndrome
- Name Cn
- 黑色素瘤星形细胞瘤综合征
- Name Pinyin
- Hei Se Su Liu Xing Xing Xi Bao Liu Zong He Zheng
- Name En
- Melanoma Astrocytoma Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Neoplastic Process
- Disgenet Type
- disease
- Mesh Class
- Nervous System Diseases; Neoplasms
- Do Class
- genetic disease
- Hpo Class
- Mesh Class Name
- Neoplasms; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- genetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:An extremely rare tumour association characterised by dual predisposition to melanoma and neural system tumours (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumour, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumours, and in other cases, melanoma was a secondary cancer. The aetiology of this tumour association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.|SNOMEDCT_US_2016_09_01:An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Melanoma Astrocytoma Syndrome
Role
preferred
Name
Melanoma-Astrocytoma Syndrome
Role
preferred
Name
MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS015284
Omim
155755
Umls
C1835042
Sym Map
SMDE03628
Do Class
DOID:630
Dis Ge Net
C1835042
Umls Sty
T191
Me Sh Class
C04C10
Etcm Disease
Melanoma-Astrocytoma Syndrome
Tcmbank Disease
22685
Itcmdb Generated
ITX-DISEASE-D47501AF4A88
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Page Title
Disease Melanoma-Astrocytoma Syndrome Details page
Do Class Name
genetic disease
Disease Type
disease
Do Disease Class
genetic disease
Umls Disease Type
Neoplastic Process
Basic Information
Disease Name
Melanoma-Astrocytoma Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases;Skin diseases
Disease Definition
SNOMEDCT_US_2016_09_01:An extremely rare tumour association characterised by dual predisposition to melanoma and neural system tumours (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumour, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumours, and in other cases, melanoma was a secondary cancer. The aetiology of this tumour association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.|SNOMEDCT_US_2016_09_01:An extremely rare tumor association characterized by dual predisposition to melanoma and neural system tumors (typically astrocytoma). Fewer than 20 affected families have been reported to date. Affected individuals had cutaneous melanoma in association with dysplastic nevi, astrocytoma, benign or malignant peripheral nerve sheath tumor, neurofibroma, medulloblastoma, glioblastoma multiforme, ependymoma, glioma, and meningioma. In some cases, melanoma was described first followed by nervous system tumors, and in other cases, melanoma was a secondary cancer. The etiology of this tumor association is unknown. Genetic mutations or germline deletions are thought to underlie this cancer susceptibility syndrome.
Me Sh Disease Class
Nervous System Diseases; Neoplasms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Neoplasms; Nervous System Diseases
Umls Semantic Type Name
Neoplastic Process