Lista chorób rzadkich*

158676 - Localized dystrophic epidermolysis bullosa, nails only

158681 - Epidermolysis bullosa simplex with circinate migratory erythema

158684 - Epidermolysis bullosa simplex with pyloric atresia

158687 - Lethal acantholytic erosive disorder

158766 - Typical urticaria pigmentosa

158769 - Plaque-form urticaria pigmentosa

158772 - Nodular urticaria pigmentosa

158775 - Smoldering systemic mastocytosis

158778 - Isolated bone marrow mastocytosis

158793 - OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia

158796 - OBSOLETE: Classic mast cell leukemia

158799 - OBSOLETE: Aleukemic mast cell leukemia

160148 - Cap polyposis

162516 - Isolated congenital nasal pyriform aperture stenosis

162521 - OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly

162526 - Isolated congenital auditory ossicle malformation

163209 - Non-syndromic cerebral malformation due to abnormal neuronal migration

163525 - Subacute cutaneous lupus erythematosus

163528 - OBSOLETE: Acute cutaneous lupus erythematosus

163531 - Chronic cutaneous lupus erythematosus

163582 - Rare bacterial infectious disease

163585 - Rare viral disease

163588 - Rare parasitic disease

163591 - Rare mycosis

163596 - Hb Bart's hydrops fetalis

163631 - Bile acid synthesis defect with cholestasis and malabsorption

163634 - Maffucci syndrome

163637 - Rare disorder related with pregnancy, childbirth and puerperium

163649 - Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

163654 - Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

163662 - Spondyloepiphyseal dysplasia, Reardon type

163665 - Spondyloepiphyseal dysplasia tarda, Kohn type

163668 - Spondyloepiphyseal dysplasia, MacDermot type

163673 - Spondyloepiphyseal dysplasia, Byers type

163678 - OBSOLETE: Unclassified spondylometaphyseal dysplasia

163681 - CNTNAP2-related developmental and epileptic encephalopathy

163684 - Leukoencephalopathy-dystonia-motor neuropathy syndrome

163690 - Hypotonia-cystinuria syndrome

163693 - 2p21 microdeletion syndrome

163696 - Action myoclonus-renal failure syndrome

163699 - Alveolar soft tissue sarcoma

163703 - Febrile infection-related epilepsy syndrome

163708 - Cryptogenic late-onset epileptic spasms

163717 - Benign familial mesial temporal lobe epilepsy

163721 - Rolandic epilepsy-speech dyspraxia syndrome

163727 - Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome

163746 - Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

163892 - OBSOLETE: Limbic encephalitis

163895 - OBSOLETE: Paraneoplastic limbic encephalitis

163898 - OBSOLETE: Classic paraneoplastic limbic encephalitis

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