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61764000: Homocarnosinase deficiency (disorder)


Status: current, Necessary but not sufficient concept definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
102638014 Homocarnosinase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
102639018 Homocarnosinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
800862016 Homocarnosinase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Homocarnosinase deficiency Is a Disorder of beta alanine, carnosine AND/OR homocarnosine metabolism true Inferred relationship Some
Homocarnosinase deficiency Is a Enzymopathy true Inferred relationship Some
Homocarnosinase deficiency Finding site Body system structure false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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