Lista chorób rzadkich*

79304 - Progressive familial intrahepatic cholestasis type 2

79305 - Progressive familial intrahepatic cholestasis type 3

79306 - Progressive familial intrahepatic cholestasis type 1

79310 - Vitamin B12-responsive methylmalonic acidemia type cblA

79311 - Vitamin B12-responsive methylmalonic acidemia type cblB

79312 - Vitamin B12-unresponsive methylmalonic acidemia type mut-

79314 - L-2-hydroxyglutaric aciduria

79315 - D-2-hydroxyglutaric aciduria

79316 - OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency

79317 - OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency

79318 - PMM2-CDG

79319 - MPI-CDG

79320 - ALG6-CDG

79321 - ALG3-CDG

79322 - DPM1-CDG

79323 - MPDU1-CDG

79324 - ALG12-CDG

79325 - ALG8-CDG

79326 - ALG2-CDG

79327 - ALG1-CDG

79328 - ALG9-CDG

79329 - MGAT2-CDG

79330 - MOGS-CDG

79332 - B4GALT1-CDG

79333 - COG7-CDG

79344 - OBSOLETE: Chondrodysplasia punctata, Sheffield type

79345 - Brachytelephalangic chondrodysplasia punctata

79346 - Chondrodysplasia punctata, tibial-metacarpal type

79347 - Chondrodysplasia punctata, Toriello type

79350 - 3-phosphoserine phosphatase deficiency, infantile/juvenile form

79351 - 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form

79353 - Epidermal disease

79354 - Ichthyosis

79355 - Erythrokeratoderma

79356 - Acrokeratoderma

79357 - Hereditary palmoplantar keratoderma

79358 - Porokeratosis

79359 - Other epidermal disorder

79360 - Other genetic epidermal disease

79361 - Inherited epidermolysis bullosa

79362 - Epidermal appendage anomaly

79363 - Hair anomaly

79364 - Alopecia

79365 - Rare disorder with hypertrichosis

79366 - Isolated hair shaft abnormality

79367 - Syndromic hair shaft abnormality

79368 - Nail anomaly

79369 - Isolated nail anomaly

79370 - Syndromic nail anomaly

79372 - Sebaceous gland anomaly

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