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789657008: ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2020. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3791224013 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis en Synonym Active Entire term case sensitive SNOMED CT core module
3791225014 Juvenile parkinsonism, neuronal ceroid lipofuscinosis en Synonym Active Entire term case insensitive SNOMED CT core module
3791226010 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
3791227018 CLN12 disease en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Spinocerebellar ataxia true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Finding site Spinal cord structure true Inferred relationship Existential restriction modifier 2
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Neuronal ceroid lipofuscinosis true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Parkinsonism true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Occurrence Childhood true Inferred relationship Existential restriction modifier 1
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Finding site Basal ganglion structure true Inferred relationship Existential restriction modifier 3
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Finding site Cerebellar structure true Inferred relationship Existential restriction modifier 1
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Cerebral degeneration in childhood true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 2
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 3
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Chronic brain syndrome true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Clinical course Progressive true Inferred relationship Existential restriction modifier 4
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Occurrence Childhood true Inferred relationship Existential restriction modifier 3
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Occurrence Childhood true Inferred relationship Existential restriction modifier 2
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Chronic metabolic disorder true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Occurrence Congenital true Inferred relationship Existential restriction modifier 5
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Is a Acquired ataxia true Inferred relationship Existential restriction modifier
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Interprets Movement true Inferred relationship Existential restriction modifier 7
ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis Has interpretation Slow true Inferred relationship Existential restriction modifier 7

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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