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1260097007: Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Dec 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
5159126016 PADDAS syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
5159127013 SCA47 - spinocerebellar ataxia type 47 en Synonym Active Entire term case sensitive SNOMED CT core module
5159128015 Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
5159129011 Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
5159130018 PUM1-associated developmental disability, ataxia, seizure syndrome 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
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Is a Intellectual disability true Inferred relationship Existential restriction modifier
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Is a Spinocerebellar ataxia true Inferred relationship Existential restriction modifier
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Is a Developmental delay true Inferred relationship Existential restriction modifier
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Interprets Intellectual ability true Inferred relationship Existential restriction modifier 3
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 3
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Interprets Adaptation behavior true Inferred relationship Existential restriction modifier 4
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Has interpretation Impaired true Inferred relationship Existential restriction modifier 4
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Finding site Cerebellar structure true Inferred relationship Existential restriction modifier 1
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Finding site Spinal cord structure true Inferred relationship Existential restriction modifier 2
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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