Lista chorób rzadkich*

98872 - Primary acquired pure red cell aplasia

98873 - Congenital dyserythropoietic anemia type II

98878 - Hemophilia A

98879 - Hemophilia B

98880 - Familial afibrinogenemia

98881 - Familial dysfibrinogenemia

98885 - Bleeding diathesis due to glycoprotein VI deficiency

98886 - Bleeding diathesis due to integrin alpha2-beta1 deficiency

98888 - X-linked complex spastic paraplegia

98889 - Bilateral perisylvian polymicrogyria

98890 - Early-onset X-linked optic atrophy

98892 - Periventricular nodular heterotopia

98893 - Congenital muscular dystrophy type 1B

98894 - Congenital muscular dystrophy type 1D

98895 - Becker muscular dystrophy

98896 - Duchenne muscular dystrophy

98897 - Oculopharyngodistal myopathy

98902 - Amish nemaline myopathy

98904 - Congenital myopathy with excess of thin filaments

98905 - Congenital multicore myopathy with external ophthalmoplegia

98907 - Neutral lipid storage disease with ichthyosis

98908 - Neutral lipid storage myopathy

98909 - Desminopathy

98910 - Alpha-crystallinopathy

98911 - Distal myotilinopathy

98912 - Late-onset distal myopathy, Markesbery-Griggs type

98913 - Postsynaptic congenital myasthenic syndromes

98914 - Presynaptic congenital myasthenic syndromes

98915 - Synaptic congenital myasthenic syndromes

98916 - Acute inflammatory demyelinating polyradiculoneuropathy

98917 - Acute motor and sensory axonal neuropathy

98918 - Acute motor axonal neuropathy

98919 - Miller Fisher syndrome

98920 - Spinal muscular atrophy with respiratory distress type 1

98922 - Blake pouch cyst

98932 - OBSOLETE: Shy-Drager syndrome

98933 - Multiple system atrophy, parkinsonian type

98934 - Huntington disease-like 2

98938 - Colobomatous microphthalmia

98941 - OBSOLETE: Von Hippel anomaly

98942 - Coloboma of choroid and retina

98943 - Coloboma of eye lens

98944 - Coloboma of iris

98945 - Coloboma of macula

98946 - Coloboma of eyelid

98947 - Coloboma of optic disc

98948 - Congenital symblepharon

98949 - Complete cryptophthalmia

98950 - Partial cryptophthalmia

98951 - Inverse Marcus-Gunn phenomenon

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