234405009: Triose phosphate isomerase deficiency (disorder)

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

\Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\Triose phosphate isomerase deficiency

\Disease\Disorder of cellular component of blood\Red blood cell disorder\Erythrocyte enzyme deficiency\Triose phosphate isomerase deficiency
\Disease\Disorder of body system\Red blood cell disorder\Erythrocyte enzyme deficiency\Triose phosphate isomerase deficiency
\Disease\Metabolic disease\Enzymopathy\Specific enzyme deficiency\Triose phosphate isomerase deficiency

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

351196018 Triose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351197010 TPI - Thiose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

622719012 Triose phosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475893012 Deficiency of phosphotriose isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475894018 Deficiency of triosephosphate mutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351196018 Triose phosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

351196018 Triose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

351197010 TPI - Thiose phosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

622719012 Triose phosphate isomerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

622719012 Triose phosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475893012 Deficiency of phosphotriose isomerase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2475893012 Deficiency of phosphotriose isomerase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2475894018 Deficiency of triosephosphate mutase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2475894018 Deficiency of triosephosphate mutase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3426301001000116 Triosephosphat-Isomerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

873451000172117 déficit en triose-phosphate isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

873451000172117 déficit en triose-phosphate isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3426301001000116 Triosephosphat-Isomerase-Mangel de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Triose phosphate isomerase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Triose phosphate isomerase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Triose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Triose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Triose phosphate isomerase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Triose phosphate isomerase deficiency	Has definitional manifestation	Red blood cell finding (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Haemolytic anaemia due to triose phosphate isomerase deficiency	Is a	False	Triose phosphate isomerase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
Haemolytic anaemia due to triose phosphate isomerase deficiency	Associated etiologic finding	False	Triose phosphate isomerase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency	Associated etiologic finding	False	Triose phosphate isomerase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency	Due to	True	Triose phosphate isomerase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Haemolytic anaemia due to triose phosphate isomerase deficiency	Due to	True	Triose phosphate isomerase deficiency	Inferred relationship	Existential restriction modifier (core metadata concept)	5

This concept is not in any reference sets