234405009: deficiëntie van triosefosfaatisomerase (aandoening)

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

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

\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Erythrocyte enzyme deficiency\Triose phosphate isomerase deficiency
\Disease\Disorder of body system\Hematological disorder (disorder)\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

6897321000146110 triosefosfaatisomerasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6897331000146112 deficiëntie van triosefosfaatisomerase nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7122911000146115 TPI-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7153151000146113 tekort aan TPI nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9129751000146115 TIM-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10537861000146112 deficiëntie van triosefosfaatisomerase (aandoening) nl Fully specified name 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
Triose phosphate isomerase deficiency	Is a	Erythrocyte enzyme deficiency	true	Inferred relationship	Some
Triose phosphate isomerase deficiency	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Triose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Triose phosphate isomerase deficiency	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
Triose phosphate isomerase deficiency	Is a	Specific enzyme deficiency	true	Inferred relationship	Some
Triose phosphate isomerase deficiency	Has definitional manifestation	Red blood cell finding	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hemolytic anemia due to triose phosphate isomerase deficiency	Is a	False	Triose phosphate isomerase deficiency	Inferred relationship	Some
Hemolytic anemia due to triose phosphate isomerase deficiency	Associated etiologic finding	False	Triose phosphate isomerase deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Associated etiologic finding	False	Triose phosphate isomerase deficiency	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)	Due to	True	Triose phosphate isomerase deficiency	Inferred relationship	Some	5
Hemolytic anemia due to triose phosphate isomerase deficiency	Due to	True	Triose phosphate isomerase deficiency	Inferred relationship	Some	5

This concept is not in any reference sets