FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

44641000: Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
74466015 HNSHA due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
74467012 Triosephosphate deficiency anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493971019 Triosephosphate deficiency anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2620827010 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2620828017 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914313017 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914791016 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3780589014 Hereditary nonspherocytic haemolytic anaemia due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
74466015 HNSHA due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
74467012 Triosephosphate deficiency anemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
74467012 Triosephosphate deficiency anemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493971019 Triosephosphate deficiency anaemia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
493971019 Triosephosphate deficiency anaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
781793016 HNSHA due to triosephosphate isomerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
781793016 HNSHA due to triosephosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
2612403013 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to triosephosphate isomerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2620827010 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2620828017 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914313017 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914313017 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914791016 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2914791016 Hereditary nonspherocytic hemolytic anemia due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3780589014 Hereditary nonspherocytic haemolytic anaemia due to triosephosphate isomerase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
6250131000241110 anémie hémolytique héréditaire non sphérocytaire due à un déficit en triose phosphate isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6250141000241117 anémie hémolytique héréditaire non sphérocytaire due à un déficit en TPI (triose phosphate isomérase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6250131000241110 anémie hémolytique héréditaire non sphérocytaire due à un déficit en triose phosphate isomérase fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6250141000241117 anémie hémolytique héréditaire non sphérocytaire due à un déficit en TPI (triose phosphate isomérase) fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
HNSHA due to triosephosphate isomerase deficiency Is a Congenital anomaly of the haematopoietic system false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a Anemia due to enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a Inborn error of metabolism false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a Hereditary disorder of haematologic sysem false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a Erythrocyte enzyme deficiency true Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Finding site Erythrocyte true Inferred relationship Existential restriction modifier (core metadata concept) 4
HNSHA due to triosephosphate isomerase deficiency Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Is a Hereditary nonspherocytic haemolytic anaemia true Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Associated etiologic finding Enzymopathy false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Associated etiologic finding Triose phosphate isomerase deficiency false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Has definitional manifestation érythropénie false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Finding site Hematopoietic system structure false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Due to Triose phosphate isomerase deficiency true Inferred relationship Existential restriction modifier (core metadata concept) 5
HNSHA due to triosephosphate isomerase deficiency Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Has definitional manifestation Hemolysis false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
HNSHA due to triosephosphate isomerase deficiency Interprets Red blood cell count true Inferred relationship Existential restriction modifier (core metadata concept) 1
HNSHA due to triosephosphate isomerase deficiency Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
HNSHA due to triosephosphate isomerase deficiency Interprets Measurement of total haemoglobin concentration true Inferred relationship Existential restriction modifier (core metadata concept) 2
HNSHA due to triosephosphate isomerase deficiency Interprets Erythrocyte destruction false Inferred relationship Existential restriction modifier (core metadata concept)
HNSHA due to triosephosphate isomerase deficiency Has interpretation Present (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
HNSHA due to triosephosphate isomerase deficiency Interprets Haemolysis true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

Back to Start