DiseaseID 14792
家族性高胰岛素性低血糖症6型
disease
SNOMEDCT_US_2016_09_01:A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia an
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Disease: 1Symptom: 2Target: 20Links: 26
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 14792
- Core Entity Id
- 72632
- Source Entity Count
- 1
- Preferred Name
- Hyperinsulinemic Hypoglycemia, Familial, 6
- Name Cn
- 家族性高胰岛素性低血糖症6型
- Name Pinyin
- Jia Zu Xing Gao Yi Dao Su Xing Di Xue Tang Zheng 6 Xing
- Name En
- Hyperinsulinemic Hypoglycemia, Familial, 6
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nutritional and Metabolic Diseases
- Do Class
- genetic disease; disease of metabolism
- Hpo Class
- Mesh Class Name
- Nutritional and Metabolic Diseases
- Hpo Class Name
- Do Class Name
- disease of metabolism; genetic disease
- Disease Definition
- SNOMEDCT_US_2016_09_01:A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.|SNOMEDCT_US_2016_09_01:A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hyperinsulinemic Hypoglycemia, Familial, 6
Role
preferred
Name
Familial Hyperinsulinemic Hypoglycemia 6
Role
alias
Name
HHF6
Role
alias
Name
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS016395
Omim
606762
Umls
C1847555
Sym Map
SMDE00974
Do Class
DOID:0014667DOID:630
Dis Ge Net
C1847555
Umls Sty
T047
Me Sh Class
C18
Etcm Disease
Hyperinsulinemic Hypoglycemia, Familial, 6
Tcmbank Disease
27754
Itcmdb Generated
ITX-DISEASE-FA277B6F15C9
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Hyperinsulinemic Hypoglycemia, Familial, 6 Details page
Do Class Name
disease of metabolism; genetic disease
Disease Type
disease
Do Disease Class
genetic disease; disease of metabolism
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Hyperinsulinemic Hypoglycemia, Familial, 6
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Endocrine diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterized by an excessive uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur.|SNOMEDCT_US_2016_09_01:A frequent form of diazoxide-sensitive diffuse hyperinsulinism characterised by an excessive uncontrolled insulin secretion (inappropriate for the level of glycaemia), asymptomatic hyperammonaemia and recurrent episodes of profound hypoglycaemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycaemia may also occur.
Me Sh Disease Class
Nutritional and Metabolic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or Syndrome