DiseaseID 847
干瘜细胞增多症
disease
SNOMEDCT_US_2016_09_01:A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemoly
Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Herb: 12Symptom: 2Target: 21Links: 38
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 847
- Core Entity Id
- 951
- Source Entity Count
- 1
- Preferred Name
- Xerocytosis
- Name Cn
- 干瘜细胞增多症
- Name Pinyin
- Gan Xi Xi Bao Zeng Duo Zheng
- Name En
- Xerocytosis
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases
- Do Class
- Hpo Class
- Mesh Class Name
- Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
- Hpo Class Name
- Do Class Name
- Disease Definition
- SNOMEDCT_US_2016_09_01:A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.|SNOMEDCT_US_2016_09_01:A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Xerocytosis
Role
preferred
Name
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Role
preferred
Name
DEHYDRATED HEREDITARY STOMATOCYTOSIS
Role
alias
Name
DESICCYTOSIS, HEREDITARY
Role
alias
Name
DHS
Role
alias
Name
DHS1
Role
alias
Name
PSEUDOHYPERKALEMIA EDINBURGH
Role
alias
Name
PSEUDOHYPERKALEMIA, FAMILIAL, 1, DUE TO RED CELL LEAK
Role
alias
Name
PSHK1
Role
alias
Name
XEROCYTOSIS, HEREDITARY
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS006709HBDIS027216
Omim
194380
Umls
C0272051
Sym Map
SMDE04142
Dis Ge Net
C0272051C4551512
Umls Sty
T047
Me Sh Class
C13C15C16C20C23
Etcm Disease
Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema
Tcmbank Disease
118704187
Itcmdb Generated
ITX-DISEASE-C2FFC1ACAC16
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema Details page
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Dehydrated Hereditary Stomatocytosis 1 with or Without Pseudohyperkalemia and/or Perinatal Edema
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Immune diseases;Liver diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A rare hemolytic anemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.|SNOMEDCT_US_2016_09_01:A rare haemolytic anaemia with manifestations of decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated haemolysis. Pseudohyperkalaemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Transmission is autosomal dominant.
Me Sh Disease Class
Female Urogenital Diseases and Pregnancy Complications; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome