Lista chorób rzadkich*

225700 - Mitochondrial disease with epilepsy

225703 - Mitochondrial disease with peripheral neuropathy

225707 - Metabolic neurotransmission anomaly with epilepsy

225710 - Sterol metabolism disorder with epilepsy

225713 - Other metabolic disease with epilepsy

225968 - OBSOLETE: Inherited predisposition to essential thrombocythemia

226292 - Permanent congenital hypothyroidism

226295 - Primary congenital hypothyroidism

226298 - Central congenital hypothyroidism

226307 - Hypothyroidism due to deficient transcription factors involved in pituitary development or function

226310 - OBSOLETE: Peripheral hypothyroidism

226313 - Congenital hypothyroidism due to maternal intake of antithyroid drugs

226316 - Genetic transient congenital hypothyroidism

227510 - Multiple system atrophy, cerebellar type

227535 - Hereditary breast cancer

227786 - OBSOLETE: Familial flecked retinopathy

227796 - Fundus albipunctatus

227972 - Toxic oil syndrome

227976 - Autosomal recessive optic atrophy, OPA7 type

227982 - Autoimmune polyendocrinopathy type 3

227990 - Autoimmune polyendocrinopathy type 4

228000 - Idiopathic CD4 lymphocytopenia

228003 - Severe combined immunodeficiency due to CORO1A deficiency

228012 - Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

228113 - Anal fistula

228116 - Hughes-Stovin syndrome

228119 - Fusariosis

228123 - Coccidioidomycosis

228140 - Idiopathic ventricular fibrillation, non Brugada type

228145 - Multiple sclerosis variant

228157 - Marburg acute multiple sclerosis

228165 - Baló concentric sclerosis

228169 - Autosomal dominant striatal neurodegeneration

228174 - Autosomal dominant Charcot-Marie-Tooth disease type 2N

228179 - Autosomal dominant Charcot-Marie-Tooth disease type 2M

228184 - Heart-hand syndrome

228190 - Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

228215 - Genetic dermis elastic tissue disorder

228218 - Acquired dermis elastic tissue disorder

228221 - Acquired dermis elastic tissue disorder with decreased elastic tissue

228224 - Acquired dermis elastic tissue disorder with increased elastic tissue

228227 - Late-onset focal dermal elastosis

228236 - Linear focal elastosis

228240 - Elastoderma

228243 - Elastofibroma dorsi

228247 - Acquired pseudoxanthoma elasticum

228254 - Elastoma

228264 - Papular elastorrhexis

228272 - Primary anetoderma

228277 - Familial anetoderma

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