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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
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


9 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neuronal ceroid lipofuscinosis Is a Inherited metabolic disorder of nervous system true Inferred relationship Some
Neuronal ceroid lipofuscinosis Is a Lipofuscinosis true Inferred relationship Some
Neuronal ceroid lipofuscinosis Is a Degenerative disorder true Inferred relationship Some
Neuronal ceroid lipofuscinosis Occurrence Congenital true Inferred relationship Some 2
Neuronal ceroid lipofuscinosis Finding site Structure of nervous system (body structure) true Inferred relationship Some 3
Neuronal ceroid lipofuscinosis Associated morphology Dystrophy false Inferred relationship Some
Neuronal ceroid lipofuscinosis Associated morphology Degeneration false Inferred relationship Some 1
Neuronal ceroid lipofuscinosis Associated morphology Degenerative abnormality true Inferred relationship Some 1
Neuronal ceroid lipofuscinosis Is a Lysosomal storage disease (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Infantile neuronal ceroid lipofuscinosis (disorder) Is a True Neuronal ceroid lipofuscinosis Inferred relationship Some
Juvenile neuronal ceroid lipofuscinosis Is a True Neuronal ceroid lipofuscinosis Inferred relationship Some
Adult neuronal ceroid lipofuscinosis Is a True Neuronal ceroid lipofuscinosis Inferred relationship Some
Neuronal ceroid lipofuscinosis 8 Is a True Neuronal ceroid lipofuscinosis Inferred relationship Some
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) Is a True Neuronal ceroid lipofuscinosis Inferred relationship Some
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a True Neuronal ceroid lipofuscinosis Inferred relationship Some
Myoclonic disorder due to neuronal ceroid lipofuscinosis (disorder) Due to True Neuronal ceroid lipofuscinosis Inferred relationship Some 3

This concept is not in any reference sets

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