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42012007: 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
100411000077117 céroïde-lipofuscinose neuronale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
371651000077112 céroïde-lipofuscinose neuronale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
70121010 Neuronal ceroid lipofuscinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
70122015 Cerebromacular degeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
70123013 Cerebromacular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
70124019 Pigmentary retinal lipoid neuronal heredodegeneration en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
778865010 Neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


8 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
céroïde-lipofuscinose neuronale morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 1
céroïde-lipofuscinose neuronale est un(e) (attribut) Inherited metabolic disorder of nervous system true Inferred relationship Some
céroïde-lipofuscinose neuronale est un(e) (attribut) Lipofuscinosis true Inferred relationship Some
céroïde-lipofuscinose neuronale est un(e) (attribut) affection dégénérative true Inferred relationship Some
céroïde-lipofuscinose neuronale survenue (attribut) congénital true Inferred relationship Some 2
céroïde-lipofuscinose neuronale localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 3
céroïde-lipofuscinose neuronale morphologie associée (attribut) Dystrophy (morphologic abnormality) false Inferred relationship Some
céroïde-lipofuscinose neuronale morphologie associée (attribut) dégénérescence false Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis est un(e) (attribut) True céroïde-lipofuscinose neuronale Inferred relationship Some
céroïde-lipofuscinose neuronale infantile (trouble) est un(e) (attribut) True céroïde-lipofuscinose neuronale Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis est un(e) (attribut) True céroïde-lipofuscinose neuronale Inferred relationship Some
Adult neuronal ceroid lipofuscinosis est un(e) (attribut) True céroïde-lipofuscinose neuronale Inferred relationship Some
Neuronal ceroid lipofuscinosis 8 est un(e) (attribut) True céroïde-lipofuscinose neuronale Inferred relationship Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) est un(e) (attribut) True céroïde-lipofuscinose neuronale Inferred relationship Some

This concept is not in any reference sets

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