Diagnoslista/länkar

Listor över diagnoser som expertteamet ansvarar för. Stämmer dessa/saknas någon? Namn på svenska? Lista och länkar nedan kommer snyggas till. Ska de ligga i en och samma lista med rubriker (Lista/länkar till diagnosbeskrivningar) eller i uppdelade block likt ögonsjukdomarna nedan?

Lista/länkar till diagnosbeskrivningar

Informationstexter från Socialstyrelsen kunskapsdatabas gällande hudsjukdomar

Fokal dermal hypoplasi

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/fokal-dermal-hypoplasi/ 

Itos hypomelanos

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/itos-hypomelanos/ 

Nethertons syndrom

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/nethertons-syndrom/ 

Pachyonychia congenita

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/pachyonychia-congenita/ 

Pseudoxanthoma elasticum

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/pseudoxanthoma-elasticum/ 

Acquired immunologicaL LOw prevalence and Complex AdulT diseases of thE SKIN

Hidradenitis Suppurativa

SAPHO syndrome

PAPA syndrome

PASH syndrome

PAPASH syndrome

PASS syndrome

Autoimmune Bullous diseases

Bullous pemphigoid (BP)

Mucous membrane pemphigoid

Epidermolysis bullosa acquisita (EBA)  Epidermolysis bullosa https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/epidermolysis-bullosa/

Dermatitis herpetiformis (DH)

Pemphigus Pemfigus vulgaris https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/pemfigus-vulgaris/

Pemphigoid gestationis

Linear IgA disease

Cutaneous diseases related to DNA repair disorders

Xeroderma pigmentosum (XP)

Trichothiodystrophy

Cockayne syndrome (CS)

Werner syndrome (WS)

Bloom syndrome (BSyn)

Ectodermal Dysplasias including Incontinentia Pigmenti and p63-associated disorders

Hypo/anhidrotic ectodermal dysplasia (HED) Hypohidrotisk ektodermal dysplasi https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/hypohidrotisk-ektodermal-dysplasi/

Clouston syndrome

Papillon-Lefèvre syndrome (PLS)

EEC syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC)

Rapp-Hodgkin syndrome

ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome

Incontinentia pigmenti (IP)  Incontinentia pigmenti https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/incontinentia-pigmenti/

Ichthyosis and Palmoplantar Keratoderma

Hereditary ichthyosis

Hereditary Palmoplantar Keratoderma

Inherited Epidermolysis Bullosa and skin fragility syndromes

Epidermolysis bullosa simplex (EBS)

Junctional epidermolysis bullosa (JEB)

Dystrophic epidermolysis bullosa (DEB)

Kindler syndrome (KS)

Peeling skin syndromes

Darier disease  Dariers sjukdom https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/dariers-sjukdom/

Hailey Hailey disease

Severe cutaneous drug reactions (ToxiTEN)

Toxic epidermal necrolysis or Lyell syndrome

Stevens-Johnson syndrome

Acute generalised exanthematous pustulosis (AGEP)

DRESS syndrome


RETINAL DISEASE (retinal dystrophies)

Retinitis pigmentosa ORPHA:791

Retinitis pigmentosa, tidig form

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/retinitis-pigmentosa-tidig-form/

 

Leber congenital amaurosis ORPHA:65

Syndromic rod-cone dystrophy ORPHA:98661

Cohen syndrome ORPHA:193

Joubert syndrome with oculorenal defect ORPHA:2318

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/jouberts-syndrom/

 

 

Usher syndrome ORPHA:886
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/ushers-syndrom/

 

 

Alström syndrome ORPHA:64
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/alstroms-syndrom/

 

Bardet-Biedl syndrome ORPHA:110
https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/bardet-biedls-syndrom/

 

 

Choroideremia ORPHA:180

Progressive cone dystrophy ORPHA:1871

Best vitelliform macular dystrophy ORPHA:1243

Bests vitelliforma makuladystrofi

Bests vitelliforma makuladystrofi - Socialstyrelsen https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/bests-vitelliforma-makuladystrofi/

 

Pattern dystrophy ORPHA:63454

Cone rod dystrophy ORPHA:1872

Stargardt disease ORPHA:827

Color-vision disease ORPHA:98658

Achromatopsia ORPHA:49382

Stickler syndrome ORPHA:828

X-linked retinoschisis ORPHA:792

Familial exudative vitreoretinopathy ORPHA:891

Congenital stationary night blindness ORPHA:215


OPTIC NERVE DISEASE Neuro­ophthalmology and rare eye diseases

Hereditary optic neuropathy ORPHA:98671

Leber hereditary optic neuropathy ORPHA:104

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/lebers-hereditara-optikusneuropati/

 

 

Autosomal dominant optic atrophy ORPHA:98672

Autosomal recessive isolated optic atrophy ORPHA:98676

Syndromic optic nerve hypoplasia ORPHA:137905

Syndromic hereditary optic neuropathy ORPHA:441434

Leigh syndrome ORPHA:506

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/leighs-syndrom/

 

 

Neuro-ophthalmological disease ORPHA:140653

Craniostenosis with strabismus ORPHA:98684

Rare oculomotor nerve disorder ORPHA:98685

Supranuclear eye movement disorder ORPHA:98687

Oculomotor apraxia ORPHA:98688

Balint syndrome ORPHA:363746

Holmes-Adie syndrome ORPHA:454718

Progressive supranuclear palsy ORPHA:683

Atypical progressive supranuclear palsy syndrome ORPHA:99750

Classic progressive supranuclear palsy syndrome ORPHA:240071

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome ORPHA:240094

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome ORPHA:240112

Progressive supranuclear palsy-parkinsonism syndrome ORPHA:240085

Progressive supranuclear palsy-corticobasal syndrome ORPHA:240103

Rare disorder with ptosis ORPHA:98578

3MC syndrome ORPHA:293843

Marcus-Gunn syndrome ORPHA:91412

Septopreoptic holoprosencephaly ORPHA:280195

Spastic paraplegia-optic atrophy-neuropathy syndrome ORPHA:320406

Syndromic hereditary optic neuropathy ORPHA:441434

Syndromic optic nerve hypoplasia ORPHA:137905

Autosomal dominant optic atrophy plus syndrome ORPHA:1215

Neuromyelitis optica ORPHA:71211


Pediatric OPTIC NERVE DISEASE

Pediatric-onset glaucoma of genetic origin ORPHA:359

Anterior segment developmental anomaly without extraocular manifestations ORPHA:98634

Axenfeld-Rieger syndrome ORPHA:782

Axenfeldt-Riegers syndrom

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/axenfeld-riegers-syndrom/

 

Isolated aniridia ORPHA:250923

Syndromic aniridia ORPHA:98557

Kongenital aniridi

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/kongenital-aniridi/

 

Peters anomaly ORPHA:708

Congenital glaucoma ORPHA:98976

Primärt kongenitalt glaukom

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/primart-kongenitalt-glaukom/

 

Juvenile glaucoma ORPHA:98977

Developmental defect of the eye ORPHA:98553

Microphthalmia-anophthalmia-coloboma ORPHA:98555

Syndromic microphthalmia-anophthalmia-coloboma ORPHA:202948

Coloboma of choroid and retina ORPHA:98942

Coloboma of eye lens ORPHA:98943

Coloboma of iris ORPHA:98944

Coloboma of macula ORPHA:98945

Coloboma of eyelid ORPHA:98946

Coloboma of optic disc ORPHA:98947

Coloboma of superior eyelid ORPHA:155884

Coloboma of inferior eyelid ORPHA:155889

Septo-optic dysplasia spectrum ORPHA:3157

Rare palpebral disorder ORPHA:98560

Rare disorder of the lacrimal apparatus ORPHA:98602

Rare disorder with conjunctival involvement as a major feature ORPHA:98610

Rare palpebral disorder ORPHA:98560

Congenital ptosis ORPHA:91411

Rare disorder of the lacrimal apparatus ORPHA:98602

Rare lens disease ORPHA:98639

Early-onset non-syndromic cataract ORPHA:91492

Syndromic cataract ORPHA:98641

Norrie disease ORPHA:649

Coats plus syndrome ORPHA:313838

Vitreoretinopathy ORPHA:98668

X-linked retinoschisis ORPHA:792

Familial exudative vitreoretinopathy ORPHA:891

 Oculocutaneous or ocular albinism ORPHA:98706

Oculocutaneous albinism ORPHA:55

Ocular albinism ORPHA:284804

Syndromic oculocutaneous albinism ORPHA:284811

Albinism

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/albinism/

 

Marfan syndrome ORPHA:558

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/marfans-syndrom/

 

 

Pediatric-onset glaucoma of genetic origin ORPHA:359


ANTERIOR SEGMENT

Juvenile glaucoma ORPHA:98977

Corneal dystrophy ORPHA:34533

Superficial corneal dystrophy ORPHA:98625

Stromal corneal dystrophy ORPHA:98626

Posterior corneal dystrophy ORPHA:98627

Syndromic corneal dystrophy ORPHA:98628

Rare disorder with conjunctival involvement as a major feature ORPHA:98610

Rare refraction anomaly ORPHA:98618

Rare disease with glaucoma as a major feature ORPHA:98638

Rare lens disease ORPHA:98639

Marfan syndrome ORPHA:558

https://www.socialstyrelsen.se/kunskapsstod-och-regler/omraden/sallsynta-halsotillstand/marfans-syndrom/

 

Metabolic disease with cataract ORPHA:98644

Syndromic keratoconus ORPHA:98623