124398006: Deficiency of pyrophosphotransferase (disorder)

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

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

204204011 Deficiency of pyrophosphokinase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204205012 Deficiency of diphosphotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

204206013 Deficiency of pyrophosphotransferase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

728082013 Deficiency of pyrophosphotransferase (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5719341000172117 déficit en pyrophosphotransferase fr 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 pyrophosphotransferase	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Deficiency of pyrophosphotransferase	Finding site	Body system structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets