1197758001: Kernicterus spectrum disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Injury of head\Intracranial injury\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy

\Neurological lesion\Lesion of brain\Kernicterus of newborn\Chronic bilirubin encephalopathy

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lesion of brain\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Injury of central nervous system\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy

\Finding of neonate\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal hyperbilirubinemia\Kernicterus of newborn\Chronic bilirubin encephalopathy

\Disease\Traumatic or non-traumatic injury (disorder)\Injury of head and/or neck (disorder)\Injury of head\Intracranial injury\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of nervous system\Injury of central nervous system\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of pigmentation (disorder)\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of foetus and/or newborn\Neonatal disorder\Neonatal metabolic disorder (disorder)\Neonatal hyperbilirubinemia\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Injury of nervous system\Injury of central nervous system\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Injury of central nervous system\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lesion of brain\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy
\Disease\Disorder of head (disorder)\Injury of head\Intracranial injury\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lesion of brain\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Traumatic or nontraumatic brain injury\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy
\Disease\Metabolic disease\Neonatal metabolic disorder (disorder)\Neonatal hyperbilirubinemia\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Metabolic disease\Chronic metabolic disorder\Chronic bilirubin encephalopathy
\Disease\Metabolic disease\Disorder of porphyrin metabolism\Disorder of bilirubin metabolism\Hyperbilirubinemia\Acquired hyperbilirubinaemia\Neonatal hyperbilirubinemia\Kernicterus of newborn\Chronic bilirubin encephalopathy
\Disease\Chronic disease\Chronic metabolic disorder\Chronic bilirubin encephalopathy
\Disease\Chronic disease\Chronic nervous system disorder (disorder)\Chronic brain syndrome\Chronic bilirubin encephalopathy

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4697942014 Bilirubin-induced neurological dysfunction en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4697943016 BIND - bilirubin-induced neurological dysfunction en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4698005019 Chronic bilirubin encephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4698025015 Kernicterus spectrum disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4698026019 Kernicterus spectrum disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5399796011 A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5399797019 A rare neurologic disease characterised by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chronic bilirubin encephalopathy	Is a	Chronic metabolic disorder	true	Inferred relationship	Some
Chronic bilirubin encephalopathy	Is a	Kernicterus of newborn	true	Inferred relationship	Some
Chronic bilirubin encephalopathy	Is a	Chronic brain syndrome	true	Inferred relationship	Some
Chronic bilirubin encephalopathy	Clinical course	Chronic	true	Inferred relationship	Some	2
Chronic bilirubin encephalopathy	Occurrence	Neonatal	true	Inferred relationship	Some	1
Chronic bilirubin encephalopathy	Finding site	Brain tissue structure	false	Inferred relationship	Some	1
Chronic bilirubin encephalopathy	Associated morphology	Kernicterus	true	Inferred relationship	Some	1
Chronic bilirubin encephalopathy	Finding site	Brain structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4697942014	Bilirubin-induced neurological dysfunction	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4697943016	BIND - bilirubin-induced neurological dysfunction	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4698005019	Chronic bilirubin encephalopathy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4698025015	Kernicterus spectrum disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4698026019	Kernicterus spectrum disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5399796011	A rare neurologic disease characterized by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5399797019	A rare neurologic disease characterised by the chronic consequences of bilirubin toxicity in the globus pallidus, sub-thalamic nuclei, and other brain regions, after exposure to high levels of unconjugated bilirubin in the neonatal period. Symptoms begin after the acute phase of bilirubin encephalopathy in the first year of life, evolve slowly over several years, and include mild to severe extrapyramidal disturbances (especially dystonia and athetosis), auditory neuropathy spectrum disorder, and oculomotor and dental abnormalities.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core