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712640001: Deficiency of phosphomannomutase 2 (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3083301019 Deficiency of phosphomannomutase 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3083473016 Deficiency of phosphomannomutase 2 en Synonym (core metadata concept) 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
Deficiency of phosphomannomutase 2 (disorder) Is a Specific enzyme deficiency true Inferred relationship Some
Deficiency of phosphomannomutase 2 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital disorder of glycosylation type Ia (disorder) Due to True Deficiency of phosphomannomutase 2 (disorder) Inferred relationship Some 1

This concept is not in any reference sets

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