712640001: fosfomannomutase-2-deficiëntie (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Deficiency of phosphomannomutase 2 (disorder)

\Metabolic disease\Enzymopathy\Specific enzyme deficiency\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

6010361000146119 fosfomannomutase-2-deficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6010371000146113 PMM2-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6010381000146110 fosfomannomutase-2-deficiëntie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6010391000146112 deficiëntie van fosfomannomutase 2 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
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
Deficiency of phosphomannomutase 2 (disorder)	Is a	Hereditary metabolic disease	false	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