ITCMDBv1
DiseaseID 4391

核黄疸

disease

NCI2016_NICHD_1602D:A condition characterized by sensorineural hearing impairment, choreoathetoid movements, paralysis of upward gaze and hypoplasia of dental enamel due bilirubin deposition in the grey matter of the cen

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Disease: 1Symptom: 1Target: 9Links: 10
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Record Fields

Scalar fields from the final disease record.

Disease Id
4391
Core Entity Id
60733
Source Entity Count
2
Preferred Name
Kernicterus
Name Cn
核黄疸
Name Pinyin
He Huang Dan
Name En
Kernicterus
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; Nervous System Diseases; Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases
Do Class
disease of anatomical entity
Hpo Class
Abnormality of the nervous system
Mesh Class Name
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
Hpo Class Name
Abnormality of the nervous system
Do Class Name
disease of anatomical entity
Disease Definition
NCI2016_NICHD_1602D:A condition characterized by sensorineural hearing impairment, choreoathetoid movements, paralysis of upward gaze and hypoplasia of dental enamel due bilirubin deposition in the grey matter of the central nervous system as a consequence of increased levels of unconjugated bilirubin in the serum.|NCI2016_02D:A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.|MSH2017_2016_08_12:A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)|HPO2016_07_04:Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. [HPO:probinson]|CSP2006:brain disorder associated with high levels of bilrubin; clinical features include athetosis, muscle spasticity or hypotonia, impaired vertical gaze, and deafness; nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the blood-brain barrier; this condition occurs primarily in neonates with perinatal blood incompatibilities, but may rarely occur in adults.
Version
v2
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Kernicterus
Role
preferred
Name
Kernicterus, Unspecified
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0001343
Herb
HBDIS001613
Me Sh
D007647
Umls
C0022610
Icd10
P57P57.9
Sym Map
SMDE10202
Do Class
DOID:7
Dis Ge Net
C0022610
Umls Sty
T047
Hpo Class
HP:0000707
Me Sh Class
C10C15C16C18C20C23
Tcmbank Disease
1384516714
Itcmdb Generated
ITX-DISEASE-B907258A3DF8

Attributes

Merged source attributes and domain-specific metadata.

Version
v2
Suppress
0
Do Class Name
disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system
Do Disease Class
disease of anatomical entity
Hpo Disease Class
Abnormality of the nervous system
Umls Disease Type
Disease or Syndrome
Disease Definition
NCI2016_NICHD_1602D:A condition characterized by sensorineural hearing impairment, choreoathetoid movements, paralysis of upward gaze and hypoplasia of dental enamel due bilirubin deposition in the grey matter of the central nervous system as a consequence of increased levels of unconjugated bilirubin in the serum.|NCI2016_02D:A rare neurologic disorder occurring in infants with jaundice. It results from brain damage by existing high levels of unconjugated-indirect bilirubin.|MSH2017_2016_08_12:A term used pathologically to describe BILIRUBIN staining of the BASAL GANGLIA; BRAIN STEM; and CEREBELLUM and clinically to describe a syndrome associated with HYPERBILIRUBINEMIA. Clinical features include athetosis, MUSCLE SPASTICITY or hypotonia, impaired vertical gaze, and DEAFNESS. Nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the BLOOD-BRAIN BARRIER (e.g., SEPSIS). This condition occurs primarily in neonates (INFANT, NEWBORN), but may rarely occur in adults. (Menkes, Textbook of Child Neurology, 5th ed, p613)|HPO2016_07_04:Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. [HPO:probinson]|CSP2006:brain disorder associated with high levels of bilrubin; clinical features include athetosis, muscle spasticity or hypotonia, impaired vertical gaze, and deafness; nonconjugated bilirubin enters the brain and acts as a neurotoxin, often in association with conditions that impair the blood-brain barrier; this condition occurs primarily in neonates with perinatal blood incompatibilities, but may rarely occur in adults.
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; 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; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases
Umls Semantic Type Name
Disease or Syndrome