ein Projekt der Deutschen Gesellschaft für Anästhesiologie und Intensivmedizin e.V.

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Für die folgenden seltenen Erkrankungen finden Sie Handlungsempfehlungen zur anästhesiologischen Betreuung. Alle Handlungsempfehlungen haben einen peer-review Prozess durchlaufen und spiegeln die bestmögliche Evidence wieder. Dabei sollte nicht vergessen werden, dass viele Erkrankungen so selten sind, dass nicht alle Fragen vollständig beantwortet oder Patienten im Einzelfall anders reagieren können.

Die Handlungsempfehlungen sind in jedem Fall in Englischer Sprache veröffentlicht. In vielen Fällen finden Sie die Handlungsempfehlungen auch in weiteren Sprachen. Wir sind für jede Hilfe bei der Übersetzung der Handlungsempfehlungen in weitere Sprachen dankbar.

Für detaillierte Informationen über die Erkrankungen (Pathophysiologie, Beandlungsoptionen), Behandlungszentren und Patientenorganisationen möchten wir auf Orphanet verweisen. Unter www.orpha.net finden Sie umfassende Informationen zu über 5.000 seltenen Erkrankungen.

Categories

3-M syndrom

3-M syndrom ( 2 Files )

Erkrankung: 3-M Syndrom

ICD 10: Q87.1

Synonyme: Dolichospondylic dysplasia, 3Μ dwarfism, gloomy face syndrome, le Merrer syndrome
Achondroplasie

Achondroplasie ( 4 Files )

Erkrankung: Achondroplasie

ICD 10: Q77.4

Synonyme: Chondrodysplasie, Chondrodystrophia fetalis

Ahornsirupkrankheit

Ahornsirupkrankheit ( 1 Files )

Erkrankung: Ahornsirupkrankheit / Maple syrup urine disease

ICD 10: E71.0

Synonyme: MSUD, branched-chain ketoaciduria, branched-chain-alpha-ketoacid dehydrogenase deficiency, BCKD deficiency, BCKDH deficiency, ketoacid decarboxylase deficiency
Alkaptonurie

Alkaptonurie ( 2 Files )

Erkrankung: Alkaptonurie

ICD 10: E70.2

Synonyme: Hereditary ochronosis, Homogentisate dioxygenase deficiency

Alpha-Mannosidose

Alpha-Mannosidose ( 1 Files )

Erkrankung: Alpha-Mannosidose

ICD 10: E77.1

Synonyme: Lysosomal alpha-D-mannosidase deficiency, Alpha-Mannosidase B Deficiency 

Angelman Syndrom

Angelman Syndrom ( 1 Files )

Erkrankung: Angelman Syndrom

ICD 10: Q93.5

Synonyme: (Happy) puppet Syndrom

 

Antiphospholipid-Syndrom

Antiphospholipid-Syndrom ( 1 Files )

Erkrankung: Antiphospholipid Antibody Syndrome (APS)

ICD 10: D68.6

Synonyme: Antiphospholipid Antibody Syndrome (APS)
Apert Syndrom

Apert Syndrom ( 1 Files )

Erkrankung: Apert Syndrom

ICD 10: Q87.0

Synonyme: ACS 1, Acrocephalosyndactylie Typ 1

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita ( 2 Files )

Erkrankung: Arthrogryposis multiplex congenita

ICD 10: Q74.32

Synonyme: Arthrogryposis, Amyoplasia Congenita, Congenitale Arthromyodysplasie, Guerin-Stern-Syndrom, Myodystrophia Fetalis Deformans

Autismus Spektrum-Störung (ASS)

Autismus Spektrum-Störung (ASS) ( 1 Files )

Erkrankung: Autism spectrum disorder (ASD)

ICD 10: F84: Pervasive development disorder; F84.0: Autistic disorder; F84.2: Rett's syndrome (not part of ASD); F84.3: Other childhood disintegrative disorder; F84.5: Asperger's syndrome; F84.8: Other pervasive development disorders; F84.9: Pervasive development disorder, unspecified

Synonyme: Autistic disorder, childhood autism, pervasive developmental disorder (not otherwise specified), atypical autism, Asperger syndrome, high-functioning autism 
Beckwith-Wiedemann-Syndrom

Beckwith-Wiedemann-Syndrom ( 1 Files )

Erkrankung: Beckwith-Wiedemann-Syndrom

ICD 10: 68730

Synonyme: Exomphalos-Macroglossia – Gigantism Syndrome (EMG Syndrome)

Biotinidasemangel

Biotinidasemangel ( 1 Files )

Erkrankung: Biotinidasemangel

ICD 10: E53.8

Synonyme: Late-Onset Biotin-aesponsive Multiple Carboxylase Deficiency, Late-Onset Multiple Carboxylase Deficiency
Bronchopulmonale Dysplasie

Bronchopulmonale Dysplasie ( 1 Files )

Erkrankung: Bronchopulmonale Dysplasie

ICD 10: P27.1

Synonyme: Chronig lung disease of prematurity
Brugada-Syndrom

Brugada-Syndrom ( 2 Files )

Erkrankung: Brugada-Syndrome

ICD 10: I47.2

Snyonyme: SUNDS - Sudden unexplained nocturnal death syndrome, Idiopathic ventricular fibrillation, Pokkuri (Japanese), Bangungut, Lai Tai (Phillipines and Southeastern Asia) 
CADASIL

CADASIL ( 2 Files )

Erkrankung: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY; CADASIL (acronym of Cerebral Autosomal Dominant Arteriopaty with Subcortical Infarcts and Leukoencephalopathy)

ICD 10: F01 Vascular dementia; F01.2 Subcortical vascular dementia

Synonyme: Dementia, hereditary multi-infarct type, Casil

CHARGE Syndrom

CHARGE Syndrom ( 3 Files )

Erkrankung: CHARGE Syndrom

ICD 10: Q87.8

Synonyme: CHARGE Assoziation; Hall-Hittner Syndrom

 

Catecholaminergic Polymorphic Ventricular Tachycardia

Catecholaminergic Polymorphic Ventricular Tachycardia ( 1 Files )

Erkrankung: Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT)

ICD 10: I47 (Paroxysmal tachycardia), I47.2 (Ventricular tachycardia), ORPHA3286

Synonyme: Catecholamine-induced polymorphic ventricular tachycardia, bidirectional tachycardia induced by catecholamines, familial polymorphic ventricular tachycardia (FPVT),stress-induced polymorphic ventricular tachycardia
Central Core Erkrankung

Central Core Erkrankung ( 3 Files )

Erkrankung: Central Core Erkrankung

ICD 10: G71.2

Synonyme: Shy-McGee Syndrom

Charcot-Marie-Tooth Erkrankung

Charcot-Marie-Tooth Erkrankung ( 3 Files )

Erkrankung: Charcot-Marie-Tooth disease

ICD 10: G60.0

Synonyme: Hereditary motor and sensory neuropathy. Includes: Charcot-Marie-Tooth, Déjerine-Sottas, hereditary motor and sensory neuropathy (however this term includes several entities different from Charcot-Marie-Tooth with heterogeneous inheritance), hypertrophic neuropathy of infancy, Peroneal muscular atrophy (axonal type) (hypertrophic type), Roussy-Lévy syndrome

Collagen VI-related myopathy

Collagen VI-related myopathy ( 2 Files )

Disease name: Collagen VI-related myopathy

ICD 10: G71

Synonyms/Spectrum of phenotypes: 
Mild: Bethlem myopathy/ benign congenital muscular dystrophy
Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy
Severe: Ullrich myopathy/ congenital atonic sclerotic muscular dystrophy
Costello Syndrom

Costello Syndrom ( 1 Files )

Erkrankung: Costello Syndrom

ICD 10: Q87.8

Synonyme: Significant phenotypical overlap with CFC
Crouzon Syndrom

Crouzon Syndrom ( 1 Files )

Erkrankung: Crouzon Syndrom

ICD 10: Q75.1

Synonyme: Craniofacial dysostosis, first branchial arch syndrome
Distale Myopathie Welander

Distale Myopathie Welander ( 2 Files )

Erkrankung: Distale Myopathie Welander

ICD 10: G71.0

Synonyme: late adult onset type 1 distal myopathy; distal myopathy, Swedish type

Ehlers-Danlos-Syndrom

Ehlers-Danlos-Syndrom ( 2 Files )

Erkrankung: Ehlers-Danlos-Syndrom

ICD 10: Q79.6

Synonyme: Dystrophinopathy

Eisenmenger-Syndrom

Eisenmenger-Syndrom ( 1 Files )

Erkrankung: Eisenmenger-Syndrom 

ICD 10: Q21.8

Synonyme: Eisenmenger Erkrankung, Eisenmenger Komplex
Emery-Dreifuss-Muskeldystrophie

Emery-Dreifuss-Muskeldystrophie ( 2 Files )

Erkrankung: Emery-Dreifuss Muscular Dystrophy (EDMD)

ICD 10: G71.0

Synonyme: Benign Scapuloperoneal Muscular Dystrophy, Hauptmann-Thannhauser Muscular Dystrophy, EDMD 1 (X-linked affecting EMD gene), EDMD 2/3 (autosomal dominant/recessive affecting LMNA gene)

 

 

Epidermolysis bullosa

Epidermolysis bullosa ( 1 Files )

Erkrankung: Epidermolysis bullosa

ICD 10: Q81

Synonyme: -

Escobar Syndrom

Escobar Syndrom ( 1 Files )

Erkrankung: Multiple pterygium syndrome, Escobar variant

ICD 10: Q79.8

Synonyme: Escobar syndrome; pterygium syndrome; multiple pterygium syndrome, non-lethal type; familial pterygium syndrome; pterygium colli syndrome; pterygium universale
Fallot-Tetralogie

Fallot-Tetralogie ( 1 Files )

Erkrankung: Fallot-Tetralogie

ICD 10: Q21.3

Synyonyme: Fallot’sche Tetralogie
Familiäre Dysautonomie

Familiäre Dysautonomie ( 1 Files )

Erkrankung: Familiäre Dysautonomie

ICD 10: G90.1

Synonyme: Riley-Day-Syndrom, Hereditary Sensory and Autonomic Neuropathy Type lll, HSAN lll, HSAN3, HSN-lll
Fibrodysplasia Ossificans Progressiva

Fibrodysplasia Ossificans Progressiva ( 1 Files )

Disease name: Fibrodysplasia Ossificans Progressiva

ICD 10: M61.1

Synonyms: FOP
Fragiles X Syndrom

Fragiles X Syndrom ( 1 Files )

Erkrankung: Fragiles X Syndrom

ICD 10: Q99.2

Synonyme: FXS, FraX-Syndrome, Marker X Syndrome, Martin-Bell Syndrome
Fraser-Syndrom

Fraser-Syndrom ( 1 Files )

Erkrankung: Fraser-Syndrome

ICD 10: Q87.0

Synonyme: Cryptophthalmos syndrome
Friedreich-Ataxie

Friedreich-Ataxie ( 1 Files )

Erkrankung: Friedreich-Ataxie

ICD 10: G11.1

Synonyme: Morbus Friedreich
Gliedergürteldystrophie

Gliedergürteldystrophie ( 2 Files )

Erkrankung: Gliedergürteldystrophie, limb-girdle muscular dystrophy

ICD 10: G71.0

Synonyme: -
Glucose-6-phosphat-Dehydrogenase-Mangel

Glucose-6-phosphat-Dehydrogenase-Mangel ( 2 Files )

Erkrankung: Glucose-6-phosphate dehydrogenase deficiency

ICD 10: D55.0

Synonyme: Favism, G6PD deficiency, Glucosephosphate Dehydrogenase Deficiency
Glykogenose Typ I / Von-Gierke-Krankheit

Glykogenose Typ I / Von-Gierke-Krankheit ( 1 Files )

Erkrankung: Glykogenose Typ I / Von-Gierke-Krankheit

ICD 10: E74.0

Synonyme: Von-Gierke-Krankheit, Glycogenosis type I, Glucose-6-phosphatase deficiency, GSD-I
Goldenhar-Syndrom

Goldenhar-Syndrom ( 1 Files )

Erkrankung: Goldenhar-Syndrom

ICD 10: Q87.0

Synonyme: Oculo-Auriculo-Vertebral (OAV) syndrome / sequence, Facio-Auriculo-Vertebral syndrome, Goldenhar-Gorlin syndrome
Gómez-López-Hernández-Syndrom

Gómez-López-Hernández-Syndrom ( 1 Files )

Erkrankung: Gomez-Lopez-Hernandez Syndrom

ICD 10: Q07.8

Synonyme: Cerebellotrigeminal dermal dysplasia
Hallermann Streiff

Hallermann Streiff ( 1 Files )

Erkrankung: Hallermann Streiff Syndrome

ICD 10:

Synonyme: Francois dyscephaly syndrome, oculo mandibulo dyscephaly

Harlequin ichthyosis

Harlequin ichthyosis ( 1 Files )

Erkrankung: Harlequin ichthyosis

ICD 10: Q80.4

Synonyme: Harlequin baby, ichthyosis congenita, Ichthyosis fetalis, keratosis diffusa fetalis, Harlequin fetus, Ichthyosis congenita gravior
Homocystinurie

Homocystinurie ( 1 Files )

Erkrankung: Homocystinurie

ICD 10: E72.11

Synonyme: Homocystinemia, classical homocystinuria, cystathionine b-synthase deficiency, CBS deficiency
Hunter syndrome

Hunter syndrome ( 1 Files )

Disease name: Hunter syndrome

ICD 10: E76.1

Synonyms: Mucopolysaccharidosis, Type II; MPS2; Iduronate-2-sulfatase deficiency; IDS deficiency; sulfo-iduronate sulfatase deficiency; SIDS deficiency
Hurler Syndrom

Hurler Syndrom ( 2 Files )

Erkrankung: Hurler Syndrom

ICD 10: E76.0

Synonyme: Mucopolysaccharidosis (MPS) I-H, Alpha-L-Iduronidase Deficiency; Pfaundler-Hurler Syndrome
Joubert Syndrom

Joubert Syndrom ( 1 Files )

Erkrankung: Joubert Syndrom

ICD 10: Q04.3

Synonyme: CPD IV, Cerebelloparenchymal disorder IV, Classic Joubert syndrome, Joubert syndrome type A, Pure Joubert syndrome, Vermis-Agenesia, Joubert-Boltshauser syndrom

 

Kabuki-Syndrom

Kabuki-Syndrom ( 1 Files )

Erkrankung: Kabuki-Syndrom

ICD 10: Q87.0

Synonyme: Kabuki make-up syndrome, Niikawa-Kuroki syndrome
Kasabach-Merritt Syndrom

Kasabach-Merritt Syndrom ( 1 Files )

Erkrankung: Kasabach-Merritt syndrome

ICD 10: D75.8

Synonyme: haemangioma-thrombopenia syndrome, Kaposiform haemangioendothelioma

 

Klippel-Feil-Syndrom

Klippel-Feil-Syndrom ( 1 Files )

Erkrankung: Klippel-Feil-Syndrom

ICD 10: Q76.1

Synonyme: Cervical vertebral fusion, congenital cervical synostosis, isolated Klippel-Feil syndrome, KFS
Kongenitales zentrales Hypoventilationssyndrom

Kongenitales zentrales Hypoventilationssyndrom ( 1 Files )

Erkrankung: Kongenitales zentrales Hypoventilationssyndrom

ICD 10: G47.3

Syonyme: Undine Syndrome, Ondine's Curse

Lamellar ichthyosis

Lamellar ichthyosis ( 1 Files )

Erkrankung: Lamellar ichthyosis

ICD 10: Q80.2

Synonyme: Autosomal recessive congenital ichthyosis, bathing-suit ichthyosis (limited to the trunk)
Lenz–Majewski-Syndrom

Lenz–Majewski-Syndrom ( 1 Files )

Erkrankung: Lenz-Majewski-Syndrom

ICD 10: Q87.1

Synonyme: Dystrophinopathy
Liddle-Syndrom

Liddle-Syndrom ( 1 Files )

Erkrankung: Liddle-Syndrom

ICD 10: I15.1

Synonyme: Pseudohyperaldosteronism
Macrophage activation Syndrom

Macrophage activation Syndrom ( 1 Files )

Erkrankung: Macrophage activation Syndrom

ICD 10: D76.2

Synonyme: haemophagocytic lymphohistiocytosis, reactive haemophagocytic syndrome, hemophagocytic syndrome

Maligne Hyperthermie

Maligne Hyperthermie ( 2 Files )

Erkrankung: Maligne Hyperthermie

ICD 10: T88.3

Synonyme: Malignant Hyperpyrexia

Marfan Syndrom

Marfan Syndrom ( 1 Files )

Erkrankung: Marfan Syndrom

ICD 10: Q 87.4

Synonyme: Marfan's Syndrom 

Maroteaux-Lamy-Syndrom

Maroteaux-Lamy-Syndrom ( 1 Files )

Erkrankung: Maroteaux Lamy Syndrom

ICD 10: E76.29

Synonyme: Mucopolysaccharidosis Type VI; MPS VI; arylsulfatase B (ARSB) deficiency
Merosin-deficient congenital muscular dystrophy

Merosin-deficient congenital muscular dystrophy ( 2 Files )

Erkrankung: Merosin-deficient congenital muscular dystrophy

ICD 10: G71.0

Synonyme: Complete merosin deficient congenital muscular dystrophy, Congenital muscular dystrophy with primary laminin 2 (merosin) deficiency, Merosin negative congenital muscular dystrophy, LAMA-2 related muscular dystrophy (early and late onset LAMA-2 deficiency), Congenital muscular dystrophy, type 1A, MDCA1A

Mikrodeletionssyndrom 22q11

Mikrodeletionssyndrom 22q11 ( 2 Files )

Erkrankung: 22q11.2 deletion syndrome

ICD 10: D82.1 (DiGeorge-syndrome), Q93.81 (velo-cardio-facial syndrome)

Synonyme: DiGeorge-syndrome, velocardiofacial-syndrome (VCFS), Shprintzen-syndrome, “CATCH-22”-syndrome, conotruncal anomaly face syndrome, Takao syndrome
Mitochondriopathien

Mitochondriopathien ( 1 Files )

Erkrankung: Mitochondrial Cytopathy, Mitochondrial Myopathy, Mitochondrial
Encephalomyopathy

ICD 10:  G731.81

Synonyme: Mitochondrial diseases with typical combinations of clinical symptoms: Kearns-Sayre syndrom, progressive external ophthalmoplegia, Pearson syndrome, myoclonic epilepsy with ragged red fibers (MERFF), mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), neuropathy with ataxia and retinitis pigmentosa, maternally inherited Leigh syndrome, Leber's hereditary optic neuropathy, Leigh disease, POLG1 associated disorders, mtDNA depletion syndromes
Moebius Syndrom

Moebius Syndrom ( 1 Files )

Erkrankung: Moebius Syndrom

ICD 10: Q87.0

Synonyme: Congenital facial diplegia (congenital oculofacial paralysis, Möbius syndrome, Moebius sequence, MBS
Morquio Syndrom

Morquio Syndrom ( 1 Files )

Erkrankung: Morquio Syndrom

ICD 10: E76.219

Synonyme: Morquio-Brailsford Syndrom; Mucopolysaccharidose IV; MPS IV Typ IVA

Mounier-Kuhn Syndrom

Mounier-Kuhn Syndrom ( 2 Files )

Erkrankung: Mounier-Kuhn Syndrom

ICD 10: Q32.4; Q32.1

- With bronchiectasis: J47
- Exacerbation (acute): J47
- Lower respiratory infection: J47
- Acquired: J98.09
- With bronchiectasis: J47
- With exacerbation (acute): J47
- With lower respiratory infection: J47.0

Synonyme: Tracheobronchomegaly, trachiectasis, tracheobronchomalacia, and multiple tracheal diverticula.
Moyamoya-Erkrankung

Moyamoya-Erkrankung ( 1 Files )

Erkrankung: Moyamoya

ICD 10: I67.5

Synonyme: Moyamoya means "something hazy, like a puff of cigarette smoke" in Japanese. It is also referred to as progressive intracranical occlusive arteriopathy. 
Mucolipidose Typ 2 und 3

Mucolipidose Typ 2 und 3 ( 1 Files )

Erkrankung: Mucolipidose Typ 2 und 3

ICD 10: E77.0

Synonyme: Mucolipidose Typ 2 - I-cell disease
                                                           N-acetyl-glucosamine 1-phosphotransferase deficiency
                     Mucolipidose Typ 3 - Pseudo-Hurler polydystrophy

Multiminicor Erkrankung

Multiminicor Erkrankung ( 2 Files )

Erkrankung Multiminicore disease

ICD 10: G71.2

Synonyme: MmD, Multi-minicore disease, Minicore myopathy, Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore disease with external opthalmoplegia, SEPN1-related congenital muscular dystrophy, rigid spine syndrome, Rigid Spina Muscular Dystrophy.

Muskeldystrophie Duchenne

Muskeldystrophie Duchenne ( 3 Files )

Erkrankung: Muskeldystrophie Duchenne

ICD 10: G71.2

Synonyme: Dystrophinopathie

Myasthenia gravis

Myasthenia gravis ( 1 Files )

Erkrankung: Myasthenia gravis (MG)

ICD 10: G70.0

Synonyme: Myasthenia gravis (juvenile and adult form), autoimmune (recepter-binding antibodies) 
Myotone Dystrophie Typ 1 und 2

Myotone Dystrophie Typ 1 und 2 ( 3 Files )

Erkrankung: Myotone Dystrophie Typ 1 und 2

ICD 10: G71.1

Synonyme: Curshmann-Batten-Steinert disease, Proximal myotonic myopathy (PROMM)
Nebennierenrindeninsuffizienz

Nebennierenrindeninsuffizienz ( 2 Files )

Erkrankung: Nebenniereninsuffizienz, Acute adrenal insufficiency

ICD 10: E27.1 - E27.4

Synonyme: Addisonian Crisis, Morbus Addison
Neurodegeneration mit Eisenablagerung im Gehirn

Neurodegeneration mit Eisenablagerung im Gehirn ( 1 Files )

Erkrankung: Neurodegeneration mit Eisenablagerung im Gehirn / Pantothenate kinase-associated neurodegeneration

ICD 10: G23.0

Synonyme: Hallverorden-Spatz disease, neurodegeneration with brain iron accumulation type 1
Neurofibromatose Typ 2

Neurofibromatose Typ 2 ( 1 Files )

Erkrankung: Neurofibromatose Typ 2

ICD 10: Q85.02

Synonyme: NF2
Neuronale Ceroid-Lipofuszinose

Neuronale Ceroid-Lipofuszinose ( 1 Files )

Erkrankung: Neuronale Ceroid-Lipofuszinose

ICD 10: E75.4

Synonyme: Historically, single NCL forms have been classified according to infantile, lateinfantile, juvenile or adult onset and associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs

Noonan Syndrom

Noonan Syndrom ( 1 Files )

Erkrankung: Noonan Syndrom

ICD 10: Q87.1

Synonyme: -
Osteogenesis imperfecta

Osteogenesis imperfecta ( 1 Files )

Erkrankung: Osteogenesis imperfecta

ICD 10: Q78.0

Synonyme: brittle bone disease, Lobstein-Syndrom
 

Osteopetrose

Osteopetrose ( 1 Files )

Erkrankung: Ostepetrose

ICD 10: Q78.2

Synonyme: Marble bone disease, Albers-Schönberg disease, Osteosclerosis, Fragilitas generalisata, Ostepetrosis generalisata
Paroxysmale nächtliche Hämoglobinurie

Paroxysmale nächtliche Hämoglobinurie ( 1 Files )

Erkrankung: Paroxysmale nächtliche Hämoglobinurie, PNH

ICD 10: D59.6

Synonyme: Marchiafava-Michele disease, PNH
Pena-Shokeir-Syndrom

Pena-Shokeir-Syndrom ( 1 Files )

Erkrankung: Pena-Shokeir-Syndrom

ICD 10: Q87.8

Synonyme: Pena-Shokeir-Syndrom, Type l (OMIM 208150), Fetal akinesia sequence, Arthrogryposis multiplex congentia with pulmonary hypoplasia
Pfeiffer Syndrom

Pfeiffer Syndrom ( 1 Files )

Erkrankung: Pfeiffer Syndrom

ICD 10: Q87.0

SynonymeACS5, Acrocephalosyndactyly type V, noack syndrome, cranio-facialdermatological dysplasia 
Phokomelie

Phokomelie ( 1 Files )

Erkrankung: Phokomelie

ICD 10: Q71.1 (phocomelia upper limb), Q72.1 (phocomelia lower limb), Q73.1 (phocomelia unspecifed limb) 

Synonyme und assoziierte Erkrankungen: Roberts SC-Phocomelia Syndrom, Roberts Tetraphocomelia Syndrom, SC Phocomelia Syndrom, Pseudo-thalidomide Syndrom, Tetraphocomelia Syndrom, DK Phocomelia, Fuhrman Syndrom, Holt-Oram Syndrom, Steinfeld Syndrom
Pompe-Erkrankung

Pompe-Erkrankung ( 1 Files )

Erkrankung: Pompe-Erkrankung (auch: Pomp'sche Krankheit)

ICD 10: E74.0

Syonyme: Glycogen storage disase due to acid maltase deficiency, Glycogen storage disease type 2, GSD type 2, acid maltase deficiency, alpha-1, 4-glucosidase acid deficiency, glycogenosis due to acid maltase deficiency, glycogenosis type 2, acid alphaglucosidase (GAA) deficiency, GAA deficiency
Porphyrie

Porphyrie ( 1 Files )

Erkrankung: Porphyrie

ICD 10: E80.0, E80.1, E80.2

Synonyme: ALA dehydratase deficiency porphyria (ADP), Acute intermittent porphyria (AIP), Congenital erythopoietic porphyria (CEP), Erythropoietic protoporphyria (EPP), Hereditary coproporphyria (HCP) Porphyria cutanea (PCT), Plumboporphyria (PP) Variegate porphyria (VP), X-linked protoporphyria (XLP)
Prader-Willi Syndrom

Prader-Willi Syndrom ( 2 Files )

Erkrankung: Prader-Willi Syndrom

ICD 10: Q87.1

Synonyme: Prader-Labhardt-Willi Syndrom

 

Proteus-Syndrom

Proteus-Syndrom ( 1 Files )

Erkankung: Proteus-Syndrom

ICD 10: Q87.3

Synonyme: Wiedemann-Syndrom, Elephant man disease 
ROHHAD

ROHHAD ( 1 Files )

Erkrankung: ROHHAD

ICD 10: -

Synonyme: Rapid onset obesity, hypoventilation, hypothalamic dysfunction, and autonomic dysfunction

Rett-Syndrom

Rett-Syndrom ( 1 Files )

Erkrankung: Rett-Syndrom

ICD 10: F84.2

Synonyme: Autistic disorder (F84.0)
Russel-Silver Syndrom

Russel-Silver Syndrom ( 1 Files )

Erkrankung: Russel-Silver Syndrom

ICD 10: G71.2

Synonyme: Silver-Russell Syndrom

Russell-Silver dwarfism

Sanfilippo-Syndrom

Sanfilippo-Syndrom ( 2 Files )

Erkrankung: Sanfilippo Syndrom

ICD 10: E76.2

Synonyme: MPS III, Sanfilippo syndrome, Mucopolisaccaridosi type III
Segawa-Syndrom

Segawa-Syndrom ( 1 Files )

Erkrankung: Segawa-Syndrom

ICD 10: G24.8

Synonyme: Segawa’s disease, Dopamine-responsive dystonia (DRD),
Hereditary progressive dystonia with diurnal fluctuation, DYT5a dystonia, GTP
cyclohydrolase 1-deficient dopa-responsive dystonia
Sichelzellenanämie

Sichelzellenanämie ( 2 Files )

Erkrankung: Sichelzellenanämie

ICD 10: D57.1

Synonyme: Sickle Cell Anemia, Sickle-Hemoglobin C Disease, Sickle Beta-Plus Thalassemia and Sickle Beta-Zero Thalassemia

Sklerodermie

Sklerodermie ( 1 Files )

Erkrankung: Systemic sclerosis, Skerodermie

ICD 10: M34.0

Synonyme: Progressive systemic sclerosis, Scleroderma, CREST syndrome
Smith-Mc Cort Dysplasie

Smith-Mc Cort Dysplasie ( 1 Files )

Erkrankung: Smith-Mc Cort Dysplasie

ICD 10: -

Synonyme: Smith-Mc Cort dwarfism, ORPHA 178355
Spinale Muskelatrophie

Spinale Muskelatrophie ( 1 Files )

Erkrankung:
Spinale Muskelatrophie

ICD 10:
G12.0 - Infantile spinal muscle atrophy type l
G12.1. - Spinal muscle atrohpy childhood form type ll
G12.1 - Spinal muscle atrophy juvenile form type lll


Synonyme: 
Spinal muscle atrophy type 1: Werdnig-Hoffmanns disease (SMA l)
Spinal muscle atrophy type 2: Dubowitz disease (SMA ll)
Spinal muscle atrophy type 3: Kugelberg-Welanders diease (SMA lll)

 

Stiff-Person-Syndrom

Stiff-Person-Syndrom ( 3 Files )

Erkrankung: Stiff-Person-Syndrom, Stiff-Man-Syndrom

ICD1 10: G25.8

Synonyme: Moersch and Woltman syndrome, stiff limb syndrome, stiff trunk syndrome, PERM (progressive encephalomyelitis with rigidity and myoclonus)

Sturge-Weber Syndrom

Sturge-Weber Syndrom ( 1 Files )

Erkrankung: Sturge-Weber Syndrom

ICD 10: Q85.8

Synonyme: Dmitri disease, encephalofacial angiomatosis, enchephalotrigeminal angiomatosis, fourth phacomatosis, leptomeningeal angiomatosis, meningeal capillary angiomatosis, Sturge-Kalischer-Weber syndrome, SWS, SWS type 1-facial and leptomeningeal angiomas, SWS type 2 - facial angioma alone - no CNS involvement, SWS type 3 - isolated leptomeningeal angiomas
Stüve-Wiedemann Syndrom

Stüve-Wiedemann Syndrom ( 1 Files )

Erkrankung: Stüve-Wiedemann Syndrom

ICD 10: Q78.8

Synonyme: In älteren Literaturstellen auch als Schwartz-Jampel Typ 2 Syndrom bezeichnet
TAR Syndrom

TAR Syndrom ( 1 Files )

Erkrankung: Thrombocytopenia- Absent Radius (TAR) syndrome

ICD 10: Q87.2

Synonyme: Absent radii and thrombocytopenia, Thrombocytopenia absent radii, Thrombocytopenia absent radius syndrome, Radial Aplasia Amegakaryocytic Thrombocytopenia, Radial Aplasia Thrombocytopenia Syndrome, Radial Aplasia- Amegakaryocytic Thrombocytopenia, TAR Syndrome
Timothy Syndrom

Timothy Syndrom ( 1 Files )

Erkrankung: Timothy Syndrom

ICD 10: I45.8

Synonyme: LQT8, Long QT syndrome type 8, Long QT syndrome-syndactly syndrome
Tracheal Agenesis

Tracheal Agenesis ( 1 Files )

Erkrankung: Tracheal Agenesis

ICD 10: Q32.4

Synonyme: - 
Treacher Collins Syndrom

Treacher Collins Syndrom ( 2 Files )

Erkrankung: Treacher-Collins Syndrom

ICD 10: Q75.4

Synonyme: Mandibulofacial dysostosis, Franceschetti-Zwahlen-Klein Syndrom
VACTERL-Assoziation

VACTERL-Assoziation ( 1 Files )

Erkrankung: VACTERL-Assoziation

ICD 10: Q87.2

Synonyme: VATERS association, VACTERL association, VACTERL association (ORPHA887), VATER association (ORPHA887), VATER syndrome, ORPHA887
Von-Willebrand-Krankheit

Von-Willebrand-Krankheit ( 1 Files )

Ekrankung: Von-Willebrand-Krankheit

ICD 10: D68.0

Synonyme: Inherited bleeding disorder
Waardenburg syndromes

Waardenburg syndromes ( 1 Files )

Disease name: Waardenburg syndromes

ICD 10: Q87.8

Synonyms: Waardenburg syndrome type I, type II, type III and type IV
Zystische Fibrose

Zystische Fibrose ( 2 Files )

Disease name: Cystic fibrosis

ICD 10: E84.0

Synonyms: Mucoviscidosis

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