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1172966001: Multiple carboxylase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
4636757018 Multiple carboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
4636758011 Multiple carboxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple carboxylase deficiency Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier
Multiple carboxylase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Multiple carboxylase deficiency Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier
Multiple carboxylase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Multiple carboxylase deficiency Is a Disorder of amino acid and organic acid metabolism true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Biotinidase deficiency Is a True Multiple carboxylase deficiency Inferred relationship Existential restriction modifier
Holocarboxylase synthase deficiency Is a True Multiple carboxylase deficiency Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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