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111385000: Tay-Sachs disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
178623012 Tay-Sachs disease en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
187763014 Severe hexosaminidase A deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
187764015 TSD en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
187765019 Amaurotic familial idiocy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
187766018 Infantile amaurotic familial disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
189395019 GM>2< gangliosidosis, type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
361785018 Hexosaminidase A deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
496611000241119 maladie de Tay-Sachs (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
630949018 Tay-Sachs disease (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
894341000172116 déficit en hexosaminidase A fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
915701000172114 maladie de Tay-Sachs fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Tay-Sachs disease localisation d'une constatation (attribut) système nerveux true Inferred relationship Some 2
Tay-Sachs disease survenue (attribut) congénital true Inferred relationship Some 1
Tay-Sachs disease est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Tay-Sachs disease est un(e) (attribut) gangliosidose à GM2 true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
B variant hexosaminidase A deficiency est un(e) (attribut) True Tay-Sachs disease Inferred relationship Some
Tay-Sachs disease, variant AB est un(e) (attribut) True Tay-Sachs disease Inferred relationship Some
B1 variant hexosaminidase A deficiency est un(e) (attribut) True Tay-Sachs disease Inferred relationship Some
Family history of Tay-Sachs disease constatation associée (attribut) True Tay-Sachs disease Inferred relationship Some 1

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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