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58258004: Infantile neuronal ceroid lipofuscinosis (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
96816010 Infantile neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
96817018 Hagberg-Santavuori disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
96818011 Santavuori disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
96819015 Neuronal ceroid lipofuscinosis, infantile Finnish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
96820014 Polyunsaturated acid lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
796970016 Infantile neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231818019 Hagberg-Santavouri type neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
1231819010 Neuronal ceroid lipofuscinosis infantile Finnish type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1231820016 Polyunsaturated fatty acid lipidosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1231821017 Haltia-Santavouri type neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
893111000172116 céroïde-lipofuscinose neuronale infantile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
952631000172114 CLN (céroïde-lipofuscinose neuronale) infantile fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3440401001000114 Ceroid-Lipofuszinose, neuronale, infantile de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Infantile neuronal ceroid lipofuscinosis Is a Neuronal ceroid lipofuscinosis true Inferred relationship Some
Infantile neuronal ceroid lipofuscinosis Occurrence Congenital true Inferred relationship Some 2
Infantile neuronal ceroid lipofuscinosis Associated morphology Dystrophy false Inferred relationship Some
Infantile neuronal ceroid lipofuscinosis Associated morphology dégénérescence false Inferred relationship Some 1
Infantile neuronal ceroid lipofuscinosis Finding site Structure of nervous system (body structure) true Inferred relationship Some 3
Infantile neuronal ceroid lipofuscinosis Associated morphology Degenerative abnormality true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Late-infantile neuronal ceroid lipofuscinosis Is a True Infantile neuronal ceroid lipofuscinosis Inferred relationship Some
A rare, genetic, neuronal ceroid lipofuscinosis disorder characterized by infantile- to early childhood-onset of progressive myoclonic seizures (occasionally accompanied by generalized tonic-clonic seizures) and severe, progressive neurological regression, leading to psychomotor and cognitive decline, cerebellar ataxia, dementia and, frequently, early death. Vision loss may be associated. EEG typically reveals epileptiform activity with predominance in the posterior region and photosensitivity. Is a True Infantile neuronal ceroid lipofuscinosis Inferred relationship Some
An autosomal recessive neurodegenerative disorder with a variable age at onset in the first years of life after normal early development followed by decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. Caused by homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. Is a True Infantile neuronal ceroid lipofuscinosis Inferred relationship Some

This concept is not in any reference sets

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