DiseaseID 26234
成人发病的II型瓜氨酸血症
Citrullinemia, Type Ii, Adult-Onset
SNOMEDCT_US_2016_09_01:A severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, r
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Disease: 1Symptom: 3Target: 18Links: 27
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26234
- Core Entity Id
- 118802
- Source Entity Count
- 1
- Preferred Name
- Citrullinemia, Type Ii, Adult-Onset
- Name Cn
- 成人发病的II型瓜氨酸血症
- Name Pinyin
- Cheng Ren Fa Bing De Ii Xing Gua An Suan Xue Zheng
- Name En
- Citrullinemia, Type Ii, Adult-Onset
- 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 severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior, seizures and coma.|SNOMEDCT_US_2016_09_01:A severe subtype of citrin deficiency characterised clinically by adult onset, recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour, seizures and coma.
- Version
- v1,v2
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Citrullinemia, Type Ii, Adult-Onset
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Umls
C1863844
Sym Map
SMDE02526
Etcm Disease
Citrullinemia, Type Ii, Adult-Onset
Itcmdb Generated
ITX-DISEASE-D16C32971428
Attributes
Merged source attributes and domain-specific metadata.
Version
v1,v2
Suppress
0
Page Title
Disease Citrullinemia, Type Ii, Adult-Onset Details page
Basic Information
Disease Name
Citrullinemia, Type Ii, Adult-Onset
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Liver diseases;Neuronal diseases
Disease Definition
SNOMEDCT_US_2016_09_01:A severe subtype of citrin deficiency characterized clinically by adult onset, recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior, seizures and coma.|SNOMEDCT_US_2016_09_01:A severe subtype of citrin deficiency characterised clinically by adult onset, recurrent episodes of hyperammonaemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behaviour, seizures and coma.