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

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Concept inactivation indicator reference set

REPLACED BY association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
178829014	HNSHA due to aldolase deficiency	en	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
632811014	HNSHA due to aldolase deficiency (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1185693019	HNSHA due to aldolase A deficiency (disorder)	en	Fully specified name	Inactive	Entire term case sensitive (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
2606396016	Hereditary nonspherocytic hemolytic anemia (HNSHA) due to aldolase A deficiency (disorder)	en	Fully specified name	Inactive	Only initial character case insensitive (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)
211041000146116	erfelijke niet-sferocytaire hemolytische anemie door deficiëntie van fructose-1,6-bisfosfaataldolase (aandoening)	nl	Fully specified name	Inactive	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)