28292003: Methylmalonyl-CoA mutase deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

47355011 Methylmalonyl-CoA mutase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

758955016 Methylmalonyl-CoA mutase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1216253010 Vitamin B12 non-responsive methylmalonic acidaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1217753016 Vitamin B12 non-responsive methylmalonic acidemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

1225869017 Methylmalonyl-CoA mutase apoenzyme deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Methylmalonyl-CoA mutase deficiency	Is a	Methylmalonic acidemia	false	Inferred relationship	Some
Methylmalonyl-CoA mutase deficiency	Is a	Enzymopathy	false	Inferred relationship	Some
Methylmalonyl-CoA mutase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Methylmalonyl-CoA mutase deficiency	Occurrence	Congenital	false	Inferred relationship	Some
Methylmalonyl-CoA mutase deficiency	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Complete deficiency of methylmalonyl-CoA mutase	Is a	False	Methylmalonyl-CoA mutase deficiency	Inferred relationship	Some
Partial deficiency of methylmalonyl-CoA mutase	Is a	False	Methylmalonyl-CoA mutase deficiency	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)