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1293015005: Methylmalonate semialdehyde dehydrogenase deficiency (disorder)

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
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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Methylmalonate semialdehyde dehydrogenase deficiency Is a Specific enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept) 2

Reference Sets

GB English

US English

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