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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) est un(e) (attribut) Specific enzyme deficiency true Inferred relationship Some
Deficiency of phosphomannomutase 2 (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some

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

This concept is not in any reference sets

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