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880066000: Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder)


Status: current, Primitive. Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3994401017 Alpha-N-acetylgalactosaminidase deficiency type 3 (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
3994402012 Alpha-N-acetylgalactosaminidase deficiency type 3 en Synonym Active Initial character case insensitive SNOMED CT core
3994406010 Schindler disease type 3 en Synonym Active Case sensitive SNOMED CT core
4570368019 NAGA (alpha-N-acetylgalactosaminidase) deficiency type 3 en Synonym Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Alpha-N-acetylgalactosaminidase deficiency type 3 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 3 Is a Alpha-N-acetylgalactosaminidase deficiency true Inferred relationship Some
Alpha-N-acetylgalactosaminidase deficiency type 3 Occurrence Congenital true Inferred relationship Some 1
Alpha-N-acetylgalactosaminidase deficiency type 3 Finding site Structure of central nervous system false Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency type 3 Associated morphology Degenerative abnormality false Inferred relationship Some 2
Alpha-N-acetylgalactosaminidase deficiency type 3 Finding site Structure of nervous system true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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