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

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

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 Initial character case insensitive SNOMED CT core
5100109010 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
5100110017 SCAR17 - spinocerebellar ataxia autosomal recessive type 17 en Synonym Active Case sensitive SNOMED CT core
5100112013 Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency en Synonym Active Initial character case insensitive SNOMED CT core
5100113015 A rare autosomal recessive cerebellar ataxia with characteristics of early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor and pyramidal signs among others. en Definition Active Case sensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Intellectual disability true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Global developmental delay true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Truncal ataxia true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Developmental hereditary disorder true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Hereditary cerebellar degeneration true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Hereditary ataxia true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Chronic brain syndrome true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Cerebellar ataxia true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Clinical course Progressive true Inferred relationship Some 4
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Pathological process Pathological developmental process true Inferred relationship Some 5
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Interprets Intellectual ability true Inferred relationship Some 2
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Has interpretation Impaired true Inferred relationship Some 2
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Interprets Adaptation behaviour true Inferred relationship Some 3
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Has interpretation Impaired true Inferred relationship Some 3
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Finding site Cerebellar structure true Inferred relationship Some 1
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Associated morphology Atrophy true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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