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782719004: Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3755461016 Autosomal recessive cerebellar ataxia due to STUB1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3755463018 Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3755464012 Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3755465013 Spinocerebellar ataxia autosomal recessive type 16 en Synonym Active Entire term case insensitive SNOMED CT core module
3755466014 Autosomal recessive cerebellar ataxia due to STUB1 (STIP1 homology and U-box containing protein 1) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
3755468010 SCAR16 - spinocerebellar ataxia autosomal recessive type 16 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
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Finding site Spinal cord structure true Inferred relationship Existential restriction modifier 2
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Finding site Cerebellar structure true Inferred relationship Existential restriction modifier 1
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Associated morphology Degeneration false Inferred relationship Existential restriction modifier 2
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Is a Spinocerebellar ataxia true Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Associated morphology Degeneration false Inferred relationship Existential restriction modifier 1
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency Associated morphology Degenerative abnormality true Inferred relationship Existential restriction modifier 1
Autosomal recessive cerebellar ataxia due to STIP1 homology and U-box containing protein 1 deficiency 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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