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


Status: current, Primitive. Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3791224013 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis en Synonym Active Case sensitive SNOMED CT core
3791225014 Juvenile parkinsonism, neuronal ceroid lipofuscinosis en Synonym Active Case insensitive SNOMED CT core
3791226010 ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder) en Fully specified name Active Case sensitive SNOMED CT core
3791227018 CLN12 disease en Synonym Active Case sensitive SNOMED CT core
3791232017 A rare neuronal ceroid lipofuscinosis disorder with characteristics of juvenile-onset progressive spinocerebellar ataxia, bulbar syndrome (manifesting with dysarthria, dysphagia and dysphonia), pyramidal and extrapyramidal involvement (including myoclonus, amyotrophy, unsteady gait, akinesia, rigidity, dysarthric speech) and intellectual deterioration. Muscle biopsy displays autofluorescent bodies and lipofuscin deposits in brain and occasionally the retina upon post mortem. en Definition Active Case sensitive SNOMED CT core


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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