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29914000: Dihydrolipoamide dehydrogenase deficiency (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
50061010 Dihydrolipoamide dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
50062015 Congenital infantile lactic acidosis due to LAD deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
50063013 Maple syrup urine disease with lactic acidosis en Synonym Active Entire term case insensitive SNOMED CT core module
196762013 Maple syrup urine disease, type III en Synonym Active Only initial character case insensitive SNOMED CT core module
484421017 Deficiency of diaphorase en Synonym Active Entire term case insensitive SNOMED CT core module
484422012 Cytochrome-b reductase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
484423019 Deficiency of dihydrolipoamide dehydrogenase en Synonym Active Entire term case insensitive SNOMED CT core module
484425014 Lactic acidosis due to LAD deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
484426010 DLD - Dihydrolipoamide dehydrogenase deficiency en Synonym Active Entire term case sensitive SNOMED CT core module
484427018 Deficiency of lipoamide reductase (NADH) en Synonym Active Only initial character case insensitive SNOMED CT core module
484428011 Diaphorase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
484429015 Dihydrolipoyl dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
484430013 Lipoamide dehydrogenase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
760861015 Dihydrolipoamide dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dihydrolipoamide dehydrogenase deficiency Is a Maple syrup urine disease true Inferred relationship Existential restriction modifier
Dihydrolipoamide dehydrogenase deficiency Is a Lactic acidosis true Inferred relationship Existential restriction modifier
Dihydrolipoamide dehydrogenase deficiency Is a Disorder of pyruvate metabolism and mitochondrial respiratory chain true Inferred relationship Existential restriction modifier
Dihydrolipoamide dehydrogenase deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Dihydrolipoamide dehydrogenase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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