orphafolder

| 91088 | Other metabolic disease
| 91347 | TSH-secreting pituitary adenoma
| 91349 | Non-functioning pituitary adenoma
| 91348 | Functioning gonadotropic adenoma
| 91351 | Pituitary dermoid and epidermoid cysts
| 91350 | Pituitary deficiency due to Rathke's cleft cysts
| 91352 | Germinoma of the central nervous system
| 91136 | Acquired monoclonal Ig light chain-associated Fanconi syndrome
| 91135 | Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
| 91138 | Cryoglobulinemic vasculitis
| 91137 | Immunotactoid or fibrillary glomerulopathy
| 91140 | Unspecified juvenile idiopathic arthritis
| 91139 | Simple cryoglobulinemia
| 91144 | 46,XX disorder of sex development induced by maternal-derived androgen
| 79384 | Rare urticaria
| 79385 | Unclassified genetic skin disorder
| 79382 | Subcutaneous tissue disease
| 79383 | Lymphedema
| 79388 | Mucopolysaccharidosis with skin involvement
| 79389 | Premature aging
| 79386 | Rare skin tumor or hamartoma
| 79387 | Metabolic disease with skin involvement
| 79390 | Rare photodermatosis
| 79391 | Immune deficiency with skin involvement
| 79396 | Epidermolysis bullosa simplex, generalized severe
| 79397 | Epidermolysis bullosa simplex with mottled pigmentation
| 79394 | Congenital non-bullous ichthyosiform erythroderma
| 79395 | Keratoderma hereditarium mutilans with ichthyosis
| 79369 | Isolated nail anomaly
| 79368 | Nail anomaly
| 79367 | Syndromic hair shaft abnormality
| 79366 | Isolated hair shaft abnormality
| 79373 | Ectodermal dysplasia syndrome
| 79372 | Sebaceous gland anomaly
| 79370 | Syndromic nail anomaly
| 79377 | Dermis disorder
| 79376 | Hypopigmentation of the skin
| 79375 | Hyperpigmentation of the skin
| 79374 | Pigmentation anomaly of the skin
| 79381 | Other dermis disorder
| 79380 | Mixed dermis disorder
| 79379 | Skin vascular disease
| 79378 | Dermis elastic tissue disorder
| 79414 | Woolly hair nevus
| 79399 | Epidermolysis bullosa simplex, generalized intermediate
| 79401 | Epidermolysis bullosa simplex, Ogna type
| 79400 | Localized epidermolysis bullosa simplex
| 79403 | Junctional epidermolysis bullosa-pyloric atresia syndrome
| 79402 | Junctional epidermolysis bullosa, generalized intermediate
| 79405 | Junctional epidermolysis bullosa inversa
| 79404 | Junctional epidermolysis bullosa, generalized severe
| 79407 | Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type
| 79406 | Late-onset junctional epidermolysis bullosa
| 79409 | Recessive dystrophic epidermolysis bullosa inversa
| 79408 | Severe generalized recessive dystrophic epidermolysis bullosa
| 79411 | Transient bullous dermolysis of the newborn
| 79410 | Pretibial dystrophic epidermolysis bullosa
| 79452 | Milroy disease
| 79450 | Non-hereditary congenital primary lymphedema
| 79446 | Multiple pterygium syndrome, Aslan type
| 79447 | X-linked lethal multiple pterygium syndrome
| 79458 | Oley syndrome
| 79459 | Follicular atrophoderma-basal cell carcinoma
| 79456 | Diffuse cutaneous mastocytosis
| 79457 | Maculopapular cutaneous mastocytosis
| 79455 | Cutaneous mastocytoma
| 79435 | Oculocutaneous albinism type 4
| 79434 | Oculocutaneous albinism type 1B
| 79433 | Oculocutaneous albinism type 3
| 79432 | Oculocutaneous albinism type 2
| 79431 | Oculocutaneous albinism type 1A
| 79430 | Hermansky-Pudlak syndrome
| 79445 | Pseudopseudohypoparathyroidism
| 79444 | Pseudohypoparathyroidism type 1C
| 79443 | Pseudohypoparathyroidism type 1A
| 79482 | Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome
| 79483 | Phakomatosis cesioflammea
| 79484 | Phakomatosis cesiomarmorata
| 79485 | Phakomatosis spilorosea
| 79478 | Griscelli syndrome type 3
| 79479 | Pemphigus vegetans
| 79480 | Pemphigus erythematosus
| 79481 | Pemphigus foliaceus
| 79490 | Microcystic lymphatic malformation
| 79492 | Pili gemini
| 79493 | Brooke-Spiegler syndrome
| 79486 | Cystic hygroma
| 79489 | Macrocystic lymphatic malformation
| 79467 | Verrucous nevus
| 79466 | Inflammatory linear verrucous epidermal nevus
| 79468 | Acanthokeratolytic verrucous nevus
| 79474 | Atypical Werner syndrome
| 79477 | Griscelli syndrome type 2
| 79476 | Griscelli syndrome type 1
| 79473 | Porphyria variegata
| 79264 | Juvenile neuronal ceroid lipofuscinosis
| 79263 | Infantile neuronal ceroid lipofuscinosis
| 79262 | Adult neuronal ceroid lipofuscinosis
| 79269 | Sanfilippo syndrome type A
| 79257 | GM1 gangliosidosis type 3

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