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41326006: Classical galactosemia, heterozygous type (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
492965019 Classical galactosaemia, heterozygous type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
68934012 Classical galactosemia, heterozygous type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
778102012 Classical galactosemia, heterozygous type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Classical galactosaemia, heterozygous type est un(e) (attribut) Deficiency of UTP-hexose-1-phosphate uridylyltransferase false Inferred relationship Some
Classical galactosaemia, heterozygous type est un(e) (attribut) Deficiency of UTP-hexose-1-phosphate uridylyltransferase true Inferred relationship Some
Classical galactosaemia, heterozygous type Causative agent Uridine triphosphate-hexose-1-phosphate uridylyltransferase (substance) true Inferred relationship Some 1
Classical galactosaemia, heterozygous type localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

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