Lista chorób rzadkich*

94145 - Autosomal dominant cerebellar ataxia type I

94147 - Spinocerebellar ataxia type 7

94148 - Autosomal dominant cerebellar ataxia type III

94149 - Autosomal dominant cerebellar ataxia type IV

94150 - Anonychia congenita totalis

95157 - Acute hepatic porphyria

95159 - Hepatoerythropoietic porphyria

95161 - Chronic hepatic porphyria

95232 - Lissencephaly due to LIS1 mutation

95409 - Acute adrenal insufficiency

95426 - OBSOLETE: Chronic pain requiring intraspinal analgesia

95427 - Secondary short bowel syndrome

95428 - COG8-CDG

95429 - Angioma serpiginosum

95430 - Congenital tracheomalacia

95431 - Twin to twin transfusion syndrome

95432 - Primary progressive aphasia

95433 - Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

95434 - Autosomal recessive cerebellar ataxia-movement disorder syndrome

95443 - Mesocardia

95448 - Congenital aortic valve atresia

95449 - OBSOLETE: Congenital aortic valve insufficiency

95455 - Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

95457 - Tricuspid valve agenesis

95458 - OBSOLETE: Tricuspid valve prolapse

95459 - Congenital tricuspid stenosis

95461 - Straddling or overriding tricuspid valve

95462 - Accessory tricuspid valve tissue

95463 - Anomaly of the tricuspid subvalvular apparatus

95464 - Congenital mitral valve insufficiency and/or stenosis

95465 - Cleft mitral valve

95474 - Double-orifice mitral valve

95483 - Univentricular cardiopathy

95484 - OBSOLETE: Aneurysm or dilatation of ascending aorta

95485 - Arterial duct anomaly

95486 - Premature closure of the arterial duct

95487 - NON RARE IN EUROPE: Atypical arterial duct

95488 - Non-acquired pituitary hormone deficiency

95491 - Congenital coronary artery aneurysm

95493 - OBSOLETE: Abnormal origin or aberrant course of coronary artery

95494 - Combined pituitary hormone deficiencies, genetic forms

95495 - Disease associated with non-acquired combined pituitary hormone deficiency

95496 - Pituitary stalk interruption syndrome

95498 - Congenital anomaly of superior vena cava

95499 - Congenital anomaly of the inferior vena cava

95500 - Congenital anomaly of the coronary sinus

95501 - OBSOLETE: Congenital central diabetes insipidus

95502 - Acquired pituitary hormone deficiency

95503 - Pituitary hormone deficiency of tumoral origin

95504 - OBSOLETE: Metastatic pituitary hormone deficiency

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