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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 Reference Sets
68934012 Classical galactosemia, heterozygous type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core US English: Preferred (foundation metadata concept)
492965019 Classical galactosaemia, heterozygous type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
778102012 Classical galactosemia, heterozygous type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
971601000052117 klassisk galaktosemi, heterozygot typ sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept) Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Classical galactosemia, heterozygous type Is a Deficiency of UTP-hexose-1-phosphate uridylyltransferase false Inferred relationship Some
Classical galactosemia, heterozygous type Finding site Body system structure false Inferred relationship Some
Classical galactosemia, heterozygous type Is a Deficiency of UTP-hexose-1-phosphate uridylyltransferase true Inferred relationship Some
Classical galactosemia, heterozygous type Causative agent UTP-hexose-1-phosphate uridylyltransferase true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

US English

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