DiseaseID 4372
新生儿黄疸
disease
Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirub
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Disease: 1Symptom: 12Target: 12Links: 24
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4372
- Core Entity Id
- 60711
- Source Entity Count
- 1
- Preferred Name
- Neonatal Jaundice
- Name Cn
- 新生儿黄疸
- Name Pinyin
- Xin Sheng Er Huang Dan
- Name En
- Neonatal Jaundice
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitygenetic disease; disease of metabolism
- Hpo Class
- Abnormality of metabolism/homeostasisAbnormality of the integument; Abnormality of the digestive system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
- Hpo Class Name
- Abnormality of metabolism/homeostasisAbnormality of the digestive system; Abnormality of the integument
- Do Class Name
- disease of anatomical entitydisease of metabolism; genetic disease
- Disease Definition
- Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirub
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Neonatal Jaundice
Role
preferred
Name
Hyperbilirubinemia, Neonatal
Role
preferred
Name
Crigler Najjar Syndrome, Type 1
Role
preferred
Name
Crigler Najjar Syndrome, Type 2
Role
preferred
Name
Crigler-Najjar Syndrome Type 1
Role
preferred
Name
Crigler-Najjar Syndrome Type 2
Role
preferred
Name
Direct Hyperbilirubinemia, Neonatal
Role
preferred
Name
Gilbert Disease (Disorder)
Role
preferred
Name
Icterus Gravis Neonatorum
Role
preferred
Name
Indirect Hyperbilirubinemia, Neonatal
Role
preferred
Name
Lucey-Driscoll Syndrome (Disorder)
Role
preferred
Name
Newborn Physiological Jaundice
Role
preferred
Name
Prolonged Neonatal Jaundice
Role
preferred
Name
Crigler-Najjar Syndrome
Role
alias
Name
Crigler-Najjar Syndrome, Type I
Role
alias
Name
Crigler-Najjar Syndrome, Type Ii
Role
alias
Name
Gilbert Disease
Role
alias
Name
Gilbert Syndrome
Role
alias
Name
Gilbert'S Syndrome
Role
alias
Name
High Blood Bilirubin Levels In Neonate
Role
alias
Name
Hyperbilirubinemia, Transient Familial Neonatal
Role
alias
Name
Jaundice, Neonatal
Role
alias
Name
Neonatal Hyperbilirubinemia
Role
alias
Name
Neonatal Jaundice, Unspecified
Role
alias
Name
Physiological Neonatal Jaundice
Role
alias
Name
Prolonged Yellowing of Skin In Newborn
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0003265HP:0006579
Herb
HBDIS000684HBDIS001153HBDIS001585HBDIS006454HBDIS012063HBDIS014593HBDIS014594HBDIS014595HBDIS014598HBDIS017634HBDIS020231
Me Sh
D003414D005878D007567D051556
Omim
143500218800237900606785
Umls
C0017551C0022353C0268311C0857007C2931131C2931132
Icd10
E80.4E80.5P59.9
Med Dra
1001138710057034
Sym Map
SMDE01719SMDE05177SMDE09031SMDE09591SMDE10532SMDE11349
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0010324C0017551C0022353C0270210C0857007C1565885C1565886C1565887C1566050C1859236C2931132
Orphanet
7923479235
Umls Sty
T033T047T184
Hpo Class
HP:0001574HP:0001939HP:0025031
Me Sh Class
C16C18C23
Tcmbank Disease
1832619066203462046920925209323775239822745428167286653266
Itcmdb Generated
ITX-DISEASE-0B737FA364FAITX-DISEASE-572FCC3509AC
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v2
Suppress
0
Do Class Name
disease of anatomical entitydisease of metabolism; genetic disease
Disease Type
diseasephenotype
Hpo Class Name
Abnormality of metabolism/homeostasisAbnormality of the digestive system; Abnormality of the integument
Do Disease Class
disease of anatomical entitygenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of metabolism/homeostasisAbnormality of the integument; Abnormality of the digestive system
Umls Disease Type
Disease or SyndromeFindingSign or Symptom
Disease Definition
Crigler-Najjar syndrome type 1 (CNS1) is the most severe form of CNS (see this term), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubNCI2016_02D:An autosomal recessive inherited disorder characterized by unconjugated hyperbilirubinemia, resulting in harmless intermittent jaundice.|MSH2017_2016_08_12:A benign familial disorder, transmitted as an autosomal dominant trait. It is characterized by low-grade chronic hyperbilirubinemia with considerable daily fluctuations of the bilirubin level.NCI2016_NICHD_1602D:Increased levels of bilirubin in the blood during the first 28 days of life, which may be due to a pathologic or non-pathologic cause.|NCI2016_02D:Increased levels of bilirubin in the blood during the neonatal period. In the majority of cases it is seen in the first week of life and usually there is no underlying disease, however, it may also occur in hemolytic diseases, infections, metabolic disorders, and liver abnormalities.|MSH2017_2016_08_12:Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin.|HPO2016_07_04:A type of hyperbilirubinemia with neonatal onset. [HPO:probinson]NCI2016_NICHD_1602D:Yellow coloring of skin, mucous membranes and eyes due to hyperbilirubinemia that appears during the first 28 days of life.|NCI2016_02D:Jaundice that appears during the neonatal period. In the majority of cases, it appears in the first week of life and is classified as physiologic due to accelerated destruction of erythrocytes and liver immaturity. In a minority of cases it is classified as non-physiologic, appearing in the first twenty four hours after birth, and is associated with underlying diseases including hemolytic disorders, polycythemia, and cephalohematoma.|NANDA-I_2015-2017:The yellow-orange tint of the neonate's skin and mucous membranes that occur after 24 hours of life as a result of unconjugated bilirubin in the circulation.|MSH2017_2016_08_12:Yellow discoloration of the SKIN; MUCOUS MEMBRANE; and SCLERA in the NEWBORN. It is a sign of NEONATAL HYPERBILIRUBINEMIA. Most cases are transient self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) occurring in the first week of life, but some can be a sign of pathological disorders, particularly LIVER DISEASES.Type 2 Crigler-Najjar syndrome (CNS2) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic bilirubin glucu
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasephenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
Umls Semantic Type Name
Disease or SyndromeFindingSign or Symptom