1293015005: deficiëntie van methylmalonaatsemialdehydedehydrogenase (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Methylmalonate semialdehyde dehydrogenase deficiency

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Nov 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5277068012 Methylmalonate semialdehyde dehydrogenase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5277069016 MMSDH (methylmalonate semialdehyde dehydrogenase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5277070015 Methylmalonate semialdehyde dehydrogenase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

14605001000146112 deficiëntie van methylmalonaatsemialdehydedehydrogenase (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14605011000146114 MMSDH-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

14605021000146116 deficiëntie van methylmalonaatsemialdehydedehydrogenase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Methylmalonate semialdehyde dehydrogenase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder)	Due to	True	Methylmalonate semialdehyde dehydrogenase deficiency	Inferred relationship	Some	2

This concept is not in any reference sets