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8808004: Biotinidase 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
15536018 Biotinidase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
15537010 Juvenile multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
15538017 Late-onset multiple carboxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
830689012 Biotinidase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
1235300016 Multiple carboxylase deficiency - late onset en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
1788204015 Deficiency of biotinidase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Biotinidase deficiency Is a Non-amino organic acidemia AND/OR aciduria false Inferred relationship Some
Biotinidase deficiency Is a Disorder of branched-chain amino acid metabolism true Inferred relationship Some
Biotinidase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Biotinidase deficiency Is a Enzymopathy false Inferred relationship Some
Biotinidase deficiency Occurrence Congenital true Inferred relationship Some
Biotinidase deficiency Finding site Body system structure false Inferred relationship Some
Biotinidase deficiency Is a Specific enzyme deficiency true Inferred relationship Some
Biotinidase deficiency Is a Inborn error of metabolism true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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