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25251008: Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
42330011 HNSHA due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
2619922011 Hereditary nonspherocytic hemolytic anemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2619923018 Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2913257010 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2914100017 Hereditary nonspherocytic hemolytic anemia due to gamma glutamyl cysteine synthetase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3780594014 Hereditary nonspherocytic haemolytic anaemia due to gamma glutamyl cysteine synthetase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a Erythrocyte enzyme deficiency true Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a Hereditary disorder of hematologic system false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a Anemia due to enzyme deficiency true Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a Glutamate-cysteine ligase deficiency false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a Congenital anomaly of the hematopoietic system false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Finding site Hematopoietic system structure false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Finding site Erythrocyte true Inferred relationship Some 4
HNSHA due to gamma glutamyl cysteine synthetase deficiency Occurrence Congenital false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Is a Hereditary nonspherocytic haemolytic anaemia true Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Associated etiologic finding Enzymopathy false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Associated etiologic finding Glutamate-cysteine ligase deficiency false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Has definitional manifestation érythropénie false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Finding site Hematopoietic system structure false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Due to Glutamate-cysteine ligase deficiency true Inferred relationship Some 5
HNSHA due to gamma glutamyl cysteine synthetase deficiency Has definitional manifestation Hemolysis false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Finding site Body system structure false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Has interpretation Below reference range true Inferred relationship Some 1
HNSHA due to gamma glutamyl cysteine synthetase deficiency Interprets Red blood cell count true Inferred relationship Some 1
HNSHA due to gamma glutamyl cysteine synthetase deficiency Has interpretation Below reference range true Inferred relationship Some 2
HNSHA due to gamma glutamyl cysteine synthetase deficiency Interprets Measurement of total haemoglobin concentration true Inferred relationship Some 2
HNSHA due to gamma glutamyl cysteine synthetase deficiency Interprets Erythrocyte destruction false Inferred relationship Some
HNSHA due to gamma glutamyl cysteine synthetase deficiency Has interpretation Present true Inferred relationship Some 3
HNSHA due to gamma glutamyl cysteine synthetase deficiency Interprets Hemolysis (observable entity) true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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