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42012007: Neuronal ceroid lipofuscinosis (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
70121010 Neuronal ceroid lipofuscinosis en Synonym Active Entire term case insensitive SNOMED CT core module
70122015 Cerebromacular degeneration en Synonym Active Entire term case insensitive SNOMED CT core module
70123013 Cerebromacular dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module
70124019 Pigmentary retinal lipoid neuronal heredodegeneration en Synonym Active Entire term case insensitive SNOMED CT core module
778865010 Neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

8 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 Existential restriction modifier
Neuronal ceroid lipofuscinosis Is a Lipofuscinosis true Inferred relationship Existential restriction modifier
Neuronal ceroid lipofuscinosis Is a Degenerative disorder true Inferred relationship Existential restriction modifier
Neuronal ceroid lipofuscinosis Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Neuronal ceroid lipofuscinosis Finding site Structure of nervous system true Inferred relationship Existential restriction modifier 3
Neuronal ceroid lipofuscinosis Associated morphology Dystrophy false Inferred relationship Existential restriction modifier
Neuronal ceroid lipofuscinosis Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Neuronal ceroid lipofuscinosis Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Infantile neuronal ceroid lipofuscinosis Is a True Neuronal ceroid lipofuscinosis Inferred relationship Existential restriction modifier
Juvenile neuronal ceroid lipofuscinosis Is a True Neuronal ceroid lipofuscinosis Inferred relationship Existential restriction modifier
Adult neuronal ceroid lipofuscinosis Is a True Neuronal ceroid lipofuscinosis Inferred relationship Existential restriction modifier
Progressive epilepsy-intellectual disability syndrome Finnish type Is a True Neuronal ceroid lipofuscinosis Inferred relationship Existential restriction modifier
Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D Is a True Neuronal ceroid lipofuscinosis Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a True Neuronal ceroid lipofuscinosis Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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