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1237625002: Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5100107012 Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
5100109010 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
5100110017 SCAR17 - spinocerebellar ataxia autosomal recessive type 17 en Synonym Active Entire term case sensitive SNOMED CT core module
5100112013 Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 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 due to CWF19 like cell cycle control factor 1 deficiency Is a Intellectual disability true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Global developmental delay true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Truncal ataxia true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Hereditary cerebellar degeneration true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Hereditary ataxia true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Chronic brain syndrome true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Cerebellar ataxia true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Clinical course Progressive true Inferred relationship Existential restriction modifier 4
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Interprets Intellectual ability true Inferred relationship Existential restriction modifier 2
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Has interpretation Impaired true Inferred relationship Existential restriction modifier 2
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 3
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Finding site Cerebellar structure true Inferred relationship Existential restriction modifier 1
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Associated morphology Atrophy true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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