111578003: hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	Erythrocyte enzyme deficiency	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	Inborn error of metabolism	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	Anemia due to enzyme deficiency	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	Hereditary disorder of hematologic system	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	Congenital anomaly of the hematopoietic system	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Finding site	Erythrocyte	false	Inferred relationship	Some	4
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Occurrence	Congenital	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Is a	Hereditary nonspherocytic haemolytic anaemia	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Associated etiologic finding	Enzymopathy	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Finding site	Hematopoietic system structure	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Has definitional manifestation	erytropenie (bevinding)	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Due to	Enzymopathy	false	Inferred relationship	Some	5
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Finding site	Body system structure	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Has definitional manifestation	Hemolysis	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Has interpretation	Below reference range	false	Inferred relationship	Some	1
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Has interpretation	Below reference range	false	Inferred relationship	Some	2
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Interprets	Red blood cell count	false	Inferred relationship	Some	1
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Interprets	Measurement of total haemoglobin concentration	false	Inferred relationship	Some	2
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Interprets	Erythrocyte destruction	false	Inferred relationship	Some
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Has interpretation	Present	false	Inferred relationship	Some	3
hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	Interprets	Hemolysis (observable entity)	false	Inferred relationship	Some	3

Inbound Relationships

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Active

Source

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Refinability

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Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
199731010	Fructose 1,6-biphosphate aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
199732015	Aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1208635014	HNSHA due to aldolase A deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
2618713012	Hereditary nonspherocytic haemolytic anaemia (HNSHA) due to aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2618714018	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2913901014	Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
2914382018	Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3780590017	Hereditary nonspherocytic haemolytic anaemia due to aldolase A deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
211031000146112	erfelijke niet-sferocytaire hemolytische anemie door aldolase-A-deficiëntie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
249711000146114	erfelijke niet-sferocytaire hemolytische anemie door fructose-1,6-bisfosfaataldolasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
534421000146119	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8617831000146117	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8669531000146112	hereditaire niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)