Wyszukiwarka

Serwis Ministerstwa Zdrowia i Narodowego Funduszu Zdrowia

Lista chorób rzadkich*

Wyszukiwarka
99324 - Paternal uniparental disomy of chromosome 13
99329 - 48,XYYY syndrome
99330 - 49,XYYYY syndrome
99361 - Familial medullary thyroid carcinoma
99408 - Pituitary adenoma
99413 - Turner syndrome due to structural X chromosome anomalies
99429 - Complete androgen insensitivity syndrome
99642 - Spondyloepimetaphyseal dysplasia, Handigodu type
99645 - Dappled diaphyseal dysplasia
99646 - Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
99647 - Cheirospondyloenchondromatosis
99648 - OBSOLETE: Non-progressive congenital heart block
99649 - OBSOLETE: Generalized epilepsy and praxis-induced seizures
99650 - OBSOLETE: Non-pore-loop channelopathy involved in several types of epilepsy
99651 - OBSOLETE: Non-pore-loop channelopathy involved in other renal tubular disorder
99654 - OBSOLETE: Fibrocalculous pancreatopathy
99657 - Primary dystonia, DYT2 type
99662 - OBSOLETE: Posterior fossa tumors
99663 - OBSOLETE: Vestibular torticollis
99664 - OBSOLETE: Trochlear nerve palsy
99665 - NON RARE IN EUROPE: Ventral hernia
99666 - OBSOLETE: Atlantoaxial subluxation
99672 - Fried's tooth and nail syndrome
99688 - Dermotrichic syndrome
99694 - Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome
99701 - Mesial temporal lobe epilepsy with hippocampal sclerosis
99704 - Early-onset obesity-hyperphagia-severe developmental delay syndrome
99706 - OBSOLETE: Progeria-associated arthropathy
99710 - Punctate acrokeratoderma freckle-like pigmentation
99715 - MASS syndrome
99718 - Leber plus disease
99722 - OBSOLETE: Sporadic achalasia
99723 - OBSOLETE: Familial esophageal achalasia
99725 - Pituitary gigantism
99731 - Isolated sulfite oxidase deficiency
99732 - Sulfite oxidase deficiency due to molybdenum cofactor deficiency
99734 - Myotonia fluctuans
99735 - Myotonia permanens
99736 - Acetazolamide-responsive myotonia
99739 - Rare familial disorder with hypertrophic cardiomyopathy
99741 - King-Denborough syndrome
99742 - Amish lethal microcephaly
99745 - Typhoid
99748 - Pontiac fever
99749 - Kostmann syndrome
99750 - Atypical progressive supranuclear palsy syndrome
99756 - Alveolar rhabdomyosarcoma
99757 - Embryonal rhabdomyosarcoma
99763 - OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1
99764 - OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2
*Źródło

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