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Aceruloplasminemia
ORPHANET code: 48818 OMIM code: 604290 ICD-10 code: G23.0 Group: Rare iron metabolism rela...
May 17, 2022 -
Adenosine deaminase increased activity -ADA-
Acronym: ADA ORPHANET code: 99138 OMIM code: 102730 Group: Red cell enzymopathies Increase...
June 9, 2022 -
Adenylate kinase deficiency
Acronym: AK ORPHANET code: 86817 OMIM code: 612631 ICD-10 code: D55.3 Group: Red cell enzy...
June 9, 2022 -
Aldolase deficiency
Acronym: ALD ORPHANET code: 57 OMIM code: 611881 ICD-10 code: E74.0 Group: Red cell enzymo...
June 9, 2022 -
Alpha-thalassaemia – trait or carrier
ORPHANET code: 846 OMIM code: 141800, 604131 ICD-10 code: D56.3 Group: Thalassaemias Subgr...
June 9, 2022 -
Aplastic anemia
ORPHANET code: 397692 Group: Erythropoietic defects Subgroup: Aplastic anaemia What causes...
June 9, 2022 -
Atransferrinemia
ORPHANET code: 1195 OMIM code: 209300 ICD-10 code: D50.8 Group: Rare iron metabolism relat...
June 9, 2022 -
Atypical hemolytic uremic syndrome
ORPHANET code: 2134 ICD-10 code: D58.8 Group: Acquired hemolytic anemia What causes the di...
June 9, 2022 -
Autoimmune Haemolyitic Anaemia
ORPHANET code: 98375 ICD-10 code: D59.0 D59.1 Group: Acquired hemolytic anemia What causes...
June 9, 2022 -
Beta-thalassaemia – trait or carrier
ORPHANET code: 848 OMIM code: 141900, 604131 ICD-10 code: D56.3 Group: Thalassaemias Subgr...
June 9, 2022 -
Beta-thalassaemia major (and intermedia)
Synonym(s): Cooley’s anaemia ORPHANET code: 848 OMIM code: 141900, 604131 ICD-10 cod...
June 14, 2022 -
Compound heterozygous sickling disorders
Acronym: SCD Synonym(s): Drepanocytosis ORPHANET code: 232 OMIM code: 603903 ICD-10 code: ...
June 14, 2022 -
Congenital acanthocytosis
ORPHANET code: 98366 OMIM code: 109270 Group: Congenital Red Cell Membrane defects...
June 14, 2022 -
Congenital dyserythropoietic anaemia type I
Acronym: CDA I ORPHANET code: 98869 OMIM code: 224120 ICD-10 code: D64.4 Group: Erythropoi...
June 14, 2022 -
Congenital dyserythropoietic anaemia type II
Acronym: CDA II ORPHANET code: 98873 OMIM code: 224100 ICD-10 code: D64.4 Group: Erythropo...
June 14, 2022 -
Congenital dyserythropoietic anaemia type III
Acronym: CDA III ORPHANET code: 98870 OMIM code: 105600 ICD-10 code: D64.4 Group: Erythrop...
June 14, 2022 -
Delta Beta-thalassaemia
ORPHANET code: 231237 OMIM code: 604131 ICD-10 code: D56.2 Group: Thalassaemias Subgroup: ...
June 14, 2022 -
Diamond- Blackfan-Anemia
Acronym: DBA ORPHANET code: 124 OMIM code: 105650, 606129, 606164, 610629, 612527, 612528,...
June 14, 2022 -
DMT1- deficiency anaemia
ORPHANET code: 83642 OMIM code: 206100 ICD-10 code: D50.8 Group: Rare iron metabolism rela...
June 14, 2022 -
Fanconi anaemia
Acronym: FA ORPHANET code: 84 OMIM code: 227645 227646, 227650, 300514, 600901, 602956, 60...
June 14, 2022 -
GLRX5-related Sideroblastic anaemia
Acronym: GCS ORPHANET code: 33574 OMIM code: 230450 ICD-10 code: D55.1 Group: Red cell enz...
June 14, 2022 -
Glucose phosphate isomerase deficiency
Acronym: GPI ORPHANET code: 712 OMIM code: 613470 ICD-10 code: D55.2 Group: Red cell enzym...
June 14, 2022 -
Glucose-6-phosphate dehydrogenase deficiency
Acronym: G6PD ORPHANET code: 362 OMIM code: 305900 ICD-10 code: D55.0 Group: Red cell enzy...
June 14, 2022 -
Glutathione reductase deficiency
Acronym: GR ORPHANET code: 90030 OMIM code: 138300 ICD-10 code: D55.1 Group: Red cell enzy...
June 14, 2022 -
Glutathione synthetase deficiency
Acronym: GS ORPHANET code: 32 OMIM code: 231900 ICD-10 code: D55.1 Group: Red cell enzymop...
June 14, 2022 -
Haemoglobin C disease
Acronym: HbC Synonym(s): ATMDS, Acquired HbH disease, Acquired hemoglobin H disease ORPHAN...
June 23, 2022 -
Haemoglobin D disease
Acronym: HbD ORPHANET code: 90039 ICD-10 code: D58.2 Group: Structural haemoglobinopathies...
June 23, 2022 -
Haemoglobin E disease
Acronym: HbE ORPHANET code: 2133 ICD-10 code: D58.2 Group: Structural haemoglobinopathies ...
June 23, 2022 -
Haemoglobin H disease
ORPHANET code: 846 OMIM code: 141800, 604131 ICD-10 code: D56.0 Group: Thalassaemias Subgr...
June 23, 2022 -
Haemoglobin Lepore
Acronym: HbLepore ORPHANET code: 330032 Group: Thalassaemias Subgroup: Delta beta thalassa...
June 23, 2022 -
Haemoglobin M with anaemia
Acronym: HbM ORPHANET code: 330041 ICD-10 code: D74.0 Group: Structural haemoglobinopathie...
June 23, 2022 -
Hereditary Elliptocytosis
Acronym: HE ORPHANET code: 98864, 98865, 286 OMIM code: 109270, 130600, 141700, 166900, 16...
June 23, 2022 -
Hereditary persistance of fetal haemoglobin
Acronym: HPFH ORPHANET code: 46532 OMIM code: 141749, 142335, 142470, 305435, 613566 ICD-1...
June 23, 2022 -
Hereditary Spherocytosis
Acronym: HS Synonym(s): Minkowski-Chauffard Syndrom ORPHANET code: 822 OMIM code: 182870, ...
June 27, 2022 -
Hereditary Stomatocytosis
Acronym: HSt ORPHANET code: 3202, 3203 OMIM code: 194380, 603528, 185000 ICD-10 code: D58....
June 27, 2022 -
Hexokinase deficiency
Acronym: HK ORPHANET code: 90031 OMIM code: 235700 ICD-10 code: D55.2 Group: Red cell enzy...
June 27, 2022 -
Imerslund-Gräsbeck-Syndrom
ORPHANET code: 35858 OMIM code: 261100, 602997 ICD-10 code: D51.1 Group: Erythropoietic de...
June 27, 2022 -
Iron – refractory iron deficiency Anemia
Acronym: IRIDA ORPHANET code: 209981 OMIM code: 206200 ICD-10 code: D50.8 Group: Rare iron...
June 27, 2022 -
Lecithin cholesterol acyltransferase deficiency
Acronym: LCAT ORPHANET code: 650 OMIM code: 136120, 245900 ICD-10 code: E78.6 Group: Conge...
June 27, 2022 -
Other thalassaemias
OMIM code: 604131 ICD-10 code: D56.8 Group: Thalassaemias Subgroup: Other thalassaemias...
June 27, 2022 -
Other types of congenitale dyserythropoetic Anemia
Acronym: CDA ORPHANET code: 85, 98869, 98873, 98870 OMIM code: 224120, 224100, 105600 ICD-...
June 27, 2022 -
Paroxysmal nocturnal hemoglobinuria
Acronym: PNH Synonym(s): Marchiafava-Micheli Disease ORPHANET code: 447 OMIM code: 300818 ...
June 29, 2022 -
Pearson’s Syndrome
ORPHANET code: 699 OMIM code: 557000 ICD-10 code: D64.0 Group: Rare iron metabolism relate...
June 29, 2022 -
Phosphofructokinase deficiency
Acronym: PFK ORPHANET code: 371 OMIM code: 610681 ICD-10 code: E74.0 Group: Red cell enzym...
June 29, 2022 -
Phosphoglycerate kinase deficiency
Acronym: PGK ORPHANET code: 713 OMIM code: 300653 ICD-10 code: D55.2 Group: Red cell enzym...
June 29, 2022 -
Pyrimidine 5 nucleotidase deficiency
Acronym: P5’N-1 ORPHANET code: 35120 OMIM code: 266120 ICD-10 code: D55.3 Group: Red...
June 29, 2022 -
Pyruvate kinase deficiency
Acronym: PK ORPHANET code: 766 OMIM code: 266200 ICD-10 code: D55.2 Group: Red cell enzymo...
June 29, 2022 -
Refractory Anaemia (Myelodysplasia)
ORPHANET code: 98826 What causes the disease and how common is it?Refractory Anaemia (RA) ...
June 29, 2022 -
Severe congenital hypochromic anemia with ringed sideroblasts
ORPHANET code: 300298 OMIM code: 615234 ICD-10 code: D64.0 This disease is a very rare sev...
June 29, 2022 -
Sickle cell anaemia
Acronym: SCA Synonym(s): Drepanocytosis ORPHANET code: 232 OMIM code: 603903 ICD-10 code: ...
June 29, 2022 -
Sickle cell trait
Acronym: HbS tratt Synonym(s): Heterozygous haemoglobin S ORPHANET code: 232 OMIM code: 60...
June 29, 2022 -
Sideroblastic anaemia associated with ataxia
ORPHANET code: 2802 OMIM code: 301310 ICD-10 code: D64.3 Group: Rare iron metabolism relat...
June 29, 2022 -
SLC25A38-related Sideroblastic anaemia
ORPHANET code: 260305 OMIM code: 610819 Group: Rare iron metabolism related anemias Subgro...
June 29, 2022 -
Triose phosphate isomerase deficiency
Acronym: TPI ORPHANET code: 868 OMIM code: 190450 ICD-10 code: D55.2 Group: Red cell enzym...
June 29, 2022 -
Unstable haemoglobin
ORPHANET code: 99139 ICD-10 code: D58.2 Group: Structural haemoglobinopathies Subgroup: Ot...
June 29, 2022 -
X linked sideroblastic anaemia (gene ALAS2)
Acronym: ASLX ORPHANET code: 75563 OMIM code: 301300 ICD-10 code: D64.0 Group: Rare iron m...
June 29, 2022
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