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773498006: Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3723732015 Spinocerebellar ataxia autosomal recessive type 23 en Synonym Active Entire term case insensitive SNOMED CT core module
3723733013 SCAR23 - spinocerebellar ataxia autosomal recessive type 23 en Synonym Active Entire term case sensitive SNOMED CT core module
3723736017 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3723738016 Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Finding site Cerebellar structure true Inferred relationship Existential restriction modifier 2
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Chronic brain syndrome true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Chronic mental disorder false Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Hereditary ataxia true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Intellectual disability true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Generalized epilepsy true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Cerebellar ataxia true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Clinical course Progressive true Inferred relationship Existential restriction modifier 1
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Finding site Structure of cerebrum true Inferred relationship Existential restriction modifier 3
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Interprets Intellectual ability true Inferred relationship Existential restriction modifier 5
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Has interpretation Impaired true Inferred relationship Existential restriction modifier 5
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 6
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Has interpretation Impaired true Inferred relationship Existential restriction modifier 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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