124313003: Deficiency of phosphoribokinase (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Deficiency of transferase (disorder)\Deficiency of phosphoribokinase

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

204032014 Deficiency of phosphoribokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
727926013 Deficiency of phosphoribokinase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5728031000172112 déficit en phosphoribokinase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4900171000172119 fosforibokinasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
4900181000172116 deficiëntie van fosforibokinase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Deficiency of phosphoribokinase	Is a	Deficiency of transferase (disorder)	true	Inferred relationship	Some
Deficiency of phosphoribokinase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets