Central Registry for Rare Diseases

Description

The Central Registry of Rare Diseases is a database containing certain basic data of all Belgian patients with a rare disease. At present, data is collected only at the genetic centres, but this will later be extended to other centres in order to gain a complete overview. The term "rare diseases" is used to refer to diseases that occur in fewer than 1 in 2,000 people. The field of rare diseases is very complex due to the large number of rare diseases (up to 8,000) and the remarkable heterogeneity in these diseases. This complexity and, in particular, the rare nature of the diseases lead to problems in terms of diagnosis, care, treatment and research. A registry is a valuable source of information for patients and patient organisations, care providers, researchers and authorities, and can contribute to improvements in several areas (including epidemiology, care policy, quality assurance, research, administration).

Resources

Name Format Description Link
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
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8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
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23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
54 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
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23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
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23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
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8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
54 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
53 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
54 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
33 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
53 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
54 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
23 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
54 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
8 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0
33 https://fair.healthdata.be/dataset/a36012ab-8ab5-4fcf-b86c-c5c191ad14b0

Tags

  • syndrome-narp
  • syndrome-de-prader-willi-dû-à-une-mutation-d'empreinte
  • syndrome-de-lynch
  • syndrome-d'ondine
  • noonan-syndrome
  • arthrogryposis-syndrome
  • wac-related-facial-dysmorphism-developmental-delay-behavioral-abnormalities-syndrome
  • greig-cephalopolysyndactyly-syndrome
  • syndrome-d'ataxie-déficience-intellectuelle-apraxie-oculomotrice-kystes-cérébelleux
  • kurzrippen-polydaktylie-syndrome
  • kallmann-syndrome
  • syndrome-périodique-associé-au-récepteur-1-du-facteur-de-nécrose-tumorale
  • syndrome-trichorhinophalangien-types-1-et-3
  • charcot-marie-tooth-disease-hereditary-motor-and-sensory-neuropathy
  • toriello-lacassie-droste-syndrome
  • hyper-igm-syndrome-with-susceptibility-to-opportunistic-infections
  • syndrome-d'alport
  • syndrome-de-microdélétion-15q11.2
  • bardet-biedl-syndrome
  • syndrome-de-kleefstra-dû-à-une-microdélétion-9q34
  • megalencephaly-capillary-malformation-polymicrogyria-syndrome
  • syndrome-de-baraitser-winter-cérébrofrontofacial
  • syndrome-oculo-facio-cardio-dentaire
  • autosomal-dominant-polycystic-kidney-disease-type-1-with-tuberous-sclerosis
  • phace-syndrome
  • fatco-syndrome
  • national-institute-for-health-and-disability-insurance-(nihdi)
  • syndrome-de-jeune
  • charcot-marie-tooth-disease-type-1
  • 5q14.3-microdeletion-syndrome
  • syndrome-peho
  • syndrome-d'angelman-dû-à-une-délétion-15q11q13-d'origine-maternelle
  • syndrome-de-marfan
  • fetal-alcohol-syndrome
  • syndrome-de-prader-willi
  • ataxia-intellectual-disability-oculomotor-apraxia-cerebellar-cysts-syndrome
  • adrenogenital-syndrome
  • thomsen-and-becker-disease
  • peutz-jeghers-syndrome
  • syndrome-de-temple-lié-à-une-disomie-uniparentale-maternelle-du-chromosome-14
  • duane-retraction-syndrome
  • pik3ca-related-overgrowth-syndrome
  • syndrome-de-cowden
  • syndrome-de-saethre-chotzen
  • syndrome-d'aicardi-goutières
  • rare-endocrine-growth-disease
  • syndrome-de-brachydactylie-hypertension-artérielle
  • becker-nevus-syndrome
  • muir-torre-syndrome
  • 17p11.2-microduplication-syndrome
  • kleefstra-syndrome
  • temple-syndrome
  • short-stature-optic-atrophy-pelger-huët-anomaly-syndrome
  • alpha-thalassemia-x-linked-intellectual-disability-syndrome
  • saethre-chotzen-syndrome
  • syndrome-de-knobloch
  • icd10-o00–o99
  • loeys-dietz-syndrome
  • xq25-microduplication-syndrome
  • syndrome-d'alport-lié-à-l'x-léiomyomatose-diffuse
  • syndrome-de-microdélétion-16p11.2-proximale
  • niemann-pick-disease-type-b
  • pelizaeus-merzbacher-disease
  • nlrc4-related-familial-cold-autoinflammatory-syndrome
  • 47-xyy-syndrome
  • syndrome-d'hypotonie-épilepsie-encéphalopathie-sévère-neonatale-associé-à-pura-dû-à-une-mutation-ponctuelle
  • syndrome-de-microdélétion-17q12
  • cardiospondylocarpofacial-syndrome
  • tibial-aplasia-ectrodactyly-syndrome
  • syndrome-de-sturge-weber
  • rapid-onset-childhood-obesity-hypothalamic-dysfunction-hypoventilation-autonomic-dysregulation-syndrome
  • syndrome-de-loeys-dietz
  • syndrome-de-grande-taille-déficience-intellectuelle-dysmorphie-faciale
  • syndrome-de-turner
  • peeling-skin-syndrome-type-acral
  • syndrome-de-déficience-intellectuelle-associé-à-dyrk1a-dû-à-une-microdélétion-21q22.13-q22.2
  • bannayan-riley-ruvalcaba-syndrome
  • syndrome-héréditaire-de-prédisposition-au-cancer-du-sein-et-de-l'ovaire
  • persistent-müllerian-duct-syndrome
  • syndrome-de-wolf-hirschhorn
  • syndrome-de-costello
  • wolfram-syndrome
  • distal-17p13.3-microdeletion-syndrome
  • syndrome-de-kostmann
  • polyvalvular-heart-disease-syndrome
  • syndrome-d'anémie-hémolytique-autoimmune-thrombocytopénie-autoimmune-déficit-immunitaire-primaire
  • fatal-congenital-hypertrophic-cardiomyopathy-due-to-glycogen-storage-disease
  • syndrome-de-noonan
  • autosomal-dominant-charcot-marie-tooth-disease-type-2w
  • alpers-huttenlocher-syndrome
  • syndrome-de-prader-willi-dû-à-une-disomie-uniparentale-maternelle-du-chromosome-15
  • oculocerebrorenal-syndrome-of-lowe
  • alport-syndrome
  • syndrome-de-galloway-mowat
  • axenfeld-rieger-syndrome
  • 3m-syndrome
  • syndrome-de-microduplication-17q21.31
  • currarino-syndrome
  • glycogen-storage-disease-due-to-muscle-glycogen-phosphorylase-deficiency
  • rare-renal-disease
  • syndrome-hémolytique-et-urémique-atypique
  • adams-oliver-syndrome
  • wolf-hirschhorn-syndrome
  • syndrome-de-williams
  • infantile-epilepsy-syndrome
  • icd10-i00–i99
  • syndrome-de-hermansky-pudlak-sans-fibrose-pulmonaire
  • alagille-syndrome
  • syndrome-de-microdélétion-3p25.3
  • syndrome-de-microdélétion-22q11.2-distale
  • camurati-engelmann-disease
  • brachydactyly-arterial-hypertension-syndrome
  • syndrome-de-muir-torre
  • keipert-syndrome
  • syndrome-de-bardet-biedl
  • syndrome-de-microduplication-16p13.11
  • icd10-g00–g99
  • syndrome-d'ehlers-danlos-myopathique
  • angelman-syndrome
  • 17q12-microdeletion-syndrome
  • genetic-syndromic-pierre-robin-syndrome
  • syndrome-d'ehlers-danlos-musculocontractural
  • interstitial-lung-disease-due-to-sp-c-deficiency
  • myopathic-ehlers-danlos-syndrome
  • syndrome-de-microdélétion-20p12.3
  • syndrome-de-simpson-golabi-behmel
  • syndrome-d'alport-lié-à-l'x
  • hereditary-arterial-and-articular-multiple-calcification-syndrome
  • icd10-l00–l99
  • 20p12.3-microdeletion-syndrome
  • syndrome-de-stüve-wiedemann
  • 17q21.31-microduplication-syndrome
  • syndrome-de-prader-willi-dû-à-une-délétion-15q11q13-d'origine-paternelle-de-type-1
  • syndrome-de-microdélétion-10q22.3q23.3
  • syndrome-angio-ostéo-hypertrophique
  • blepharophimosis-intellectual-disability-syndrome-sbbys-type
  • autosomal-recessive-polycystic-kidney-disease
  • cohen-syndrome
  • 19p13.3-microduplication-syndrome
  • syndrome-d'alagille-dû-à-une-mutation-ponctuelle-de-jag1
  • syndrome-de-microcéphalie-lymphoedème-choriorétinopathie
  • syndrome-d'ehlers-danlos-classique-like-type-1
  • pituitary-stalk-interruption-syndrome
  • 16p13.11-microduplication-syndrome
  • syndrome-de-microdélétion-2q37
  • syndrome-de-microdélétion-17q21.31
  • intellectual-disability-developmental-delay-contractures-syndrome
  • wagr-syndrome
  • syndrome-noonan-like-avec-leucémie-myélomonocytaire-juvénile
  • stargardt-disease
  • hereditary-breast-and-ovarian-cancer-syndrome
  • sporadic-idiopathic-steroid-resistant-nephrotic-syndrome
  • distal-22q11.2-microdeletion-syndrome
  • syndrome-de-bruck
  • syndrome-de-déficience-intellectuelle-troubles-de-l'alimentation-retard-de-développement-microcéphalie
  • autoimmune-lymphoproliferative-syndrome
  • noonan-syndrome-with-multiple-lentigines
  • syndrome-de-bloom
  • syndrome-de-waardenburg-shah
  • syndrome-de-la-maladie-cardiaque-polyvalvulaire
  • syndrome-de-croissance-excessive-de-malan
  • syndrome-d'ehlers-danlos-classique
  • cornelia-de-lange-syndrome
  • holt-oram-syndrome
  • syndrome-de-stickler-type-1
  • syndrome-de-dysplasie-spondylo-métaphysaire-dystrophie-des-cônes-et-des-bâtonnets
  • syndrome-de-microduplication-15q11q13
  • syndrome-de-gorlin
  • senior-boichis-syndrome
  • syndrome-de-rothmund-thomson
  • x-linked-ichthyosis-syndrome
  • micrognathia-recurrent-infections-behavioral-abnormalities-mild-intellectual-disability-syndrome
  • syndrome-de-petite-taille-âge-osseux-avancé-arthrose-précoce
  • beckwith-wiedemann-syndrome
  • syndrome-oro-facio-digital-type-1
  • proximal-16p11.2-microdeletion-syndrome
  • gorlin-syndrome
  • arterial-tortuosity-syndrome
  • syndrome-de-klippel-trénaunay
  • baraitser-winter-cerebrofrontofacial-syndrome
  • orofaciodigital-syndrome-type-1
  • syndrome-de-legius
  • intellectual-disability-craniofacial-dysmorphism-cryptorchidism-syndrome
  • aicardi-goutières-syndrome
  • diaph1-related-sensorineural-hearing-loss-thrombocytopenia-syndrome
  • zellweger-syndrome
  • col4a1-or-col4a2-related-cerebral-small-vessel-disease
  • x-linked-charcot-marie-tooth-disease
  • 22q11.2-microduplication-syndrome
  • inherited-cancer-predisposing-syndrome
  • oculocerebrofacial-syndrome-kaufman-type
  • knobloch-syndrome
  • syndrome-d'andersen-tawil
  • short-stature-advanced-bone-age-early-onset-osteoarthritis-syndrome
  • wolfram-like-syndrome
  • syndrome-du-naevus-sébacé-linéaire
  • kabuki-syndrome
  • lynch-syndrome
  • syndrome-cubito-mammaire
  • treacher-collins-syndrome
  • syndrome-du-naevus-de-becker
  • syndrome-de-duplication-inversée-du-chromosome-15
  • sensory-ataxic-neuropathy-dysarthria-ophthalmoparesis-syndrome
  • marfan-syndrome
  • syndrome-de-microdélétion-2q23.1
  • ellis-van-creveld-syndrome
  • syndrome-d'ataxie-spinocérébelleuse-neuropathie-axonale-type-2
  • syndrome-de-treacher-collins
  • galloway-mowat-syndrome
  • intellectual-disability-sparse-hair-brachydactyly-syndrome
  • rare-neurodegenerative-disease
  • cat-eye-syndrome
  • syndrome-de-lymphangioendothéliomatose-multifocale-thrombocytopénie
  • syndrome-de-dravet
  • syndrome-de-cornelia-de-lange
  • health-services-research-(sciensano)
  • ataxia-hypogonadism-choroidal-dystrophy-syndrome
  • celiac-disease
  • familial-short-qt-syndrome
  • syndrome-de-délétion-22q11.2
  • syndrome-cloves
  • syndrome-cerveau-poumon-thyroïde
  • autosomal-dominant-intermediate-charcot-marie-tooth-disease-type-e
  • syndrome-wagr
  • kbg-syndrome
  • distal-16p11.2-microdeletion-syndrome
  • syndrome-de-kleefstra-dû-à-une-mutation-ponctuelle
  • syndrome-trichorhinophalangien-type-2
  • borjeson-forssman-lehmann-syndrome
  • syndrome-de-cohen
  • dravet-syndrome
  • tall-stature-intellectual-disability-facial-dysmorphism-syndrome
  • syndrome-de-gitelman
  • congenital-myasthenic-syndrome
  • neurodevelopmental-disorder-craniofacial-dysmorphism-cardiac-defect-skeletal-anomalies-syndrome
  • nlrp12-associated-hereditary-periodic-fever-syndrome
  • trichorhinophalangeal-syndrome-type-2
  • clcn4-related-x-linked-intellectual-disability-syndrome
  • bloom-syndrome
  • glycogen-storage-disease-due-to-liver-phosphorylase-kinase-deficiency
  • syndrome-de-déficience-intellectuelle-dysmorphie-faciale-par-haploinsuffisance-de-setd5
  • down-syndrome
  • ring-chromosome-20-syndrome
  • familial-idiopathic-steroid-resistant-nephrotic-syndrome
  • tarp-syndrome
  • mccune-albright-syndrome
  • autosomal-dominant-intellectual-disability-craniofacial-anomalies-cardiac-defects-syndrome
  • hallermann-streiff-syndrome
  • 16p13.11-microdeletion-syndrome
  • stickler-syndrome
  • emanuel-syndrome
  • syndrome-d'ectrodactylie-polydactylie
  • syndrome-de-smith-magenis
  • gilbert-syndrome
  • 8p23.1-microdeletion-syndrome
  • syndrome-lymphoprolifératif-auto-immun
  • syndrome-de-myopathie-à-inclusions-maladie-de-paget-démence-fronto-temporale
  • syndrome-d'anomalies-congénitales-multiples-hypotonie-épilepsie-type-2
  • simpson-golabi-behmel-syndrome
  • syndrome-de-rubinstein-taybi-par-haploinsuffisance-de-ep300
  • pens-syndrome
  • syndrome-de-microdélétion-16p13.11
  • syndrome-oculo-cérébro-rénal-de-lowe
  • waardenburg-shah-syndrome
  • acral-peeling-skin-syndrome
  • syndrome-d'hypotonie-cystinurie
  • ectodermal-dysplasia-syndrome
  • syndrome-de-rett
  • primary-tethered-cord-syndrome
  • vitiligo-associated-autoimmune-disease
  • syndrome-de-microdélétion-15q14
  • syndrome-de-peters-plus
  • hdbp0008
  • syndrome-phace
  • 3p25.3-microdeletion-syndrome
  • syndrome-de-la-corne-occipitale
  • syndrome-de-wolfram-like
  • sin3a-related-intellectual-disability-syndrome
  • 8p23.1-duplication-syndrome
  • syndrome-d'apert
  • syndrome-de-beckwith-wiedemann-dû-à-une-disomie-uniparentale-d'origine-paternelle-du-chromosome-11
  • 1p31p32-microdeletion-syndrome
  • ondine-syndrome
  • icd10-k00–k93
  • aarskog-scott-syndrome
  • syndrome-de-coffin-lowry
  • syndrome-de-koolen-de-vries
  • syndrome-de-blépharophimosis-déficience-intellectuelle-type-sbbys
  • familial-atypical-multiple-mole-melanoma-syndrome
  • syndrome-de-noonan-avec-lentigines-multiples
  • syndrome-de-protée
  • syndrome-néphrotique-congénital-type-finlandais
  • bor-syndrome
  • isolated-klippel-feil-syndrome
  • syndrome-d'hypermobilité-articulaire-familiale
  • roberts-syndrome
  • syndrome-de-céphalopolysyndactylie-de-greig
  • syndrome-ischio-vertébral
  • icd10-f00–f99
  • syndrome-avec-croissance-excessive
  • syndrome-de-microduplication-17q12
  • syndrome-de-coffin-siris
  • fetal-valproate-syndrome
  • syndrome-de-petite-taille-atrophie-optique-anomalie-de-pelger-huët
  • syndrome-de-desbuquois
  • syndrome-de-waardenburg
  • lamb-shaffer-syndrome
  • syndrome-de-microdélétion-2q31.1
  • syndrome-d'ehlers-danlos
  • peters-plus-syndrome
  • turner-syndrome
  • 1q21.1-microduplication-syndrome
  • syndrome-de-king-denborough
  • syndrome-cardio-facio-cutané
  • syndrome-d'alport-autosomique-récessif
  • acro-renal-ocular-syndrome
  • dent-disease
  • trichorhinophalangeal-syndrome-type-1-and-3
  • nance-horan-syndrome
  • macrocephaly-intellectual-disability-neurodevelopmental-disorder-small-thorax-syndrome
  • familial-articular-hypermobility-syndrome
  • syndrome-3m
  • syndrome-47,xyy
  • syndrome-du-chromosome-22-en-anneau
  • desbuquois-syndrome
  • syndrome-de-myhre
  • tbck-related-intellectual-disability-syndrome
  • monogenic-disease-with-epilepsy
  • rare-disease-with-autism
  • congenital-muscular-dystrophy-respiratory-failure-skin-abnormalities-joint-hyperlaxity-syndrome
  • von-hippel-lindau-disease
  • syndrome-néphrotique-corticorésistant-d'origine-génétique
  • transient-myeloproliferative-syndrome
  • syndrome-de-microduplication-4p16.3
  • syndrome-nail-patella
  • multiple-congenital-anomalies-hypotonia-seizures-syndrome-type-2
  • syndrome-d'angelman
  • hanac-syndrome
  • rare-genetic-hepatic-disease
  • microduplication-xp11.22p11.23-syndrome
  • syndrome-de-microdélétion-15q13.3
  • syndrome-de-hermansky-pudlak
  • 2q23.1-microdeletion-syndrome
  • syndrome-de-retard-de-développement-dysmorphie-faciale-par-déficit-en-med13l
  • ischiovertebral-syndrome
  • syndrome-de-brugada
  • syndrome-de-microduplication-1q21.1
  • kagami-ogata-syndrome
  • syndrome-d'hypoparathyroïdie-surdité-neurosensorielle-dysplasie-rénale
  • hirschsprung-disease
  • syndrome-de-maffucci
  • leber-plus-disease
  • senior-loken-syndrome
  • distal-22q11.2-microduplication-syndrome
  • syndrome-du-qt-long-familial
  • 15q11.2-microdeletion-syndrome
  • tay-sachs-disease
  • syndrome-auriculo-condylaire
  • syndrome-de-microduplication-xq28-distale
  • trismus-pseudocamptodactyly-syndrome
  • adnp-syndrome
  • syndrome-de-borjeson-forssman-lehmann
  • icd10-e00–e90
  • frontotemporal-dementia-with-motor-neuron-disease
  • syndrome-de-peutz-jeghers
  • syndrome-de-sotos
  • birt-hogg-dubé-syndrome
  • coffin-lowry-syndrome
  • syndrome-de-smith-lemli-opitz
  • rett-syndrome
  • syndrome-de-microdélétion-3q29
  • andersen-tawil-syndrome
  • syndrome-bor
  • syndrome-de-silver-russell-dû-à-un-défaut-d'empreinte-de-la-région-11p15
  • growth-hormone-insensitivity-syndrome
  • intellectual-disability-microcephaly-strabismus-behavioral-abnormalities-syndrome
  • syndrome-de-microdélétion-8p23.1
  • 4p16.3-microduplication-syndrome
  • severe-intellectual-disability-progressive-spastic-diplegia-syndrome
  • jeune-syndrome
  • syndrome-de-microduplication-7p22.1
  • renal-cysts-and-diabetes-syndrome
  • syndrome-d'alcoolisation-foetale
  • syndrome-de-luxation-de-la-hanche-dysmorphie
  • musculocontractural-ehlers-danlos-syndrome
  • syndrome-de-kallmann
  • classical-like-ehlers-danlos-syndrome-type-1
  • sotos-syndrome
  • syndrome-de-holt-oram
  • caroli-syndrome
  • sturge-weber-syndrome
  • bruck-syndrome
  • glycogen-storage-disease-due-to-glycogen-debranching-enzyme-deficiency
  • huntington-disease
  • syndrome-d'alagille-dû-à-une-microdélétion-20p12
  • syndrome-de-mowat-wilson-dû-à-une-mutation-ponctuelle-de-zeb2
  • syndrome-de-microduplication-16p11.2-proximale
  • syndrome-de-li-fraumeni
  • townes-brocks-syndrome
  • van-der-woude-syndrome
  • legius-syndrome
  • smith-lemli-opitz-syndrome
  • corpus-callosum-agenesis-neuronopathy-syndrome
  • pitt-hopkins-like-syndrome
  • 2q31.1-microdeletion-syndrome
  • symptomatic-form-of-fragile-x-syndrome-in-female-carrier
  • cloves-syndrome
  • syndrome-de-microdélétion-17p13.3-distale
  • rare-bone-disease
  • syndrome-mégalencéphalie-malformation-capillaire-polymicrogyrie
  • syndrome-d'usher-type-2
  • syndrome-hyper-igm-lié-à-l'x
  • syndrome-de-microdélétion-5q14.3
  • tumor-necrosis-factor-receptor-1-associated-periodic-syndrome
  • familial-long-qt-syndrome
  • syndrome-de-tortuosité-artérielle
  • syndrome-de-mayer-rokitansky-küster-hauser-type-2
  • narp-syndrome
  • syndrome-du-cat-eye
  • rare-endocrine-disease
  • syndrome-de-marfan-type-1
  • omenn-syndrome
  • multifocal-lymphangioendotheliomatosis-thrombocytopenia-syndrome
  • syndrome-d'alport-autosomique-dominant
  • syndrome-de-chédiak-higashi
  • oculofaciocardiodental-syndrome
  • syndrome-de-microduplication-7q11.23
  • x-linked-intellectual-disability-hypotonia-movement-disorder-syndrome
  • syndrome-d'ehlers-danlos-hypermobile
  • syndrome-de-silver-russell-dû-à-une-disomie-uniparentale-maternelle-du-chromosome-7
  • malan-overgrowth-syndrome
  • microcephaly-lymphedema-chorioretinopathy-syndrome
  • inherited-cancer-predisposing-syndrome-due-to-biallelic-brca2-mutations
  • floating-harbor-syndrome
  • pitt-hopkins-syndrome
  • pten-hamartoma-tumor-syndrome
  • autoinflammatory-syndrome-with-skin-involvement
  • syndrome-de-rett-atypique
  • syndrome-de-délétion-6q-terminale
  • rare-disease-with-malignant-hyperthermia
  • syndrome-du-naevus-épidermique
  • 17q11.2-microduplication-syndrome
  • icd10-m00–m99
  • severe-feeding-difficulties-failure-to-thrive-microcephaly-due-to-asxl3-deficiency-syndrome
  • intellectual-disability-severe-speech-delay-mild-dysmorphism-syndrome
  • dislocation-of-the-hip-dysmorphism-syndrome
  • peroxisomal-disease
  • gitelman-syndrome
  • syndrome-de-duplication-8p23.1
  • syndrome-d'hypoplasie-mandibulaire-surdité-apparence-progéroïde-lipodystrophie
  • syndrome-de-blépharophimosis-ptosis-épicanthus-inversus
  • fabry-disease
  • smith-magenis-syndrome
  • glycogen-storage-disease-due-to-acid-maltase-deficiency
  • prader-willi-syndrome
  • syndrome-de-kearns-sayre
  • syndrome-de-cataracte-glaucome
  • brugada-syndrome
  • syndrome-tarp
  • 15q14-microdeletion-syndrome
  • autosomal-dominant-tubulointerstitial-kidney-disease
  • mandibulofacial-dysostosis-microcephaly-syndrome
  • hypoparathyroidism-sensorineural-deafness-renal-disease-syndrome
  • syndrome-de-pfeiffer
  • syndrome-des-côtes-courtes-polydactylie
  • autosomal-dominant-polycystic-kidney-disease
  • syndrome-de-fièvre-périodique-héréditaire-lié-à-nlrp12
  • syndrome-de-persistance-des-canaux-de-müller
  • syndrome-tremblement-ataxie-lié-à-une-prémutation-de-l'x-fragile
  • spondylometaphyseal-dysplasia-cone-rod-dystrophy-syndrome
  • syndrome-épileptique-du-nourrisson
  • overgrowth-syndrome
  • syndrome-de-déficience-intellectuelle-apnée-obstructive-du-sommeil-dysmorphie-modérée-associé-à-ahdc1
  • myhre-syndrome
  • intellectual-disability-facial-dysmorphism-syndrome-due-to-setd5-haploinsufficiency
  • syndrome-de-kleefstra
  • hermansky-pudlak-syndrome
  • arthrochalasia-ehlers-danlos-syndrome
  • syndrome-d'omenn
  • charge-syndrome
  • syndrome-de-zellweger
  • syndrome-de-keipert
  • severe-intellectual-disability-poor-language-strabismus-grimacing-face-long-fingers-syndrome
  • otomandibular-syndrome
  • syndrome-de-rubinstein-taybi
  • koolen-de-vries-syndrome
  • icd10-d50–d89
  • syndrome-oculo-cérébro-facial-type-kaufman
  • angioosteohypertrophic-syndrome
  • syndrome-de-fanconi-primitif-rénotubulaire
  • usher-syndrome
  • unverricht-lundborg-disease
  • ollier-disease
  • syndrome-de-de-barsy-associé-à-pycr1
  • occipital-horn-syndrome
  • syndrome-d'ataxie-hypogonadisme-dystrophie-choroïdienne
  • syndrome-de-wiedemann-steiner
  • inherited-creutzfeldt-jakob-disease
  • waardenburg-syndrome
  • syndrome-de-microdélétion-1p31p32
  • king-denborough-syndrome
  • cataract-glaucoma-syndrome
  • pfeiffer-syndrome
  • myasthenische-syndrome,-kongenitale-postsynaptische
  • syndrome-de-wolfram
  • syndrome-de-déficience-intellectuelle-sévère-trouble-du-langage-strabisme-visage-grimaçant-doigts-longs
  • syndrome-de-moebius
  • isolated-pierre-robin-syndrome
  • syndrome-de-silver-russell-dû-à-une-microduplication-11p15
  • syndrome-de-microduplication-17q11.2
  • syndrome-familial-des-naevus-atypiques
  • forme-symptomatique-du-syndrome-de-l'x-fragile-de-la-femme-porteuse
  • syndrome-du-qt-court-familial
  • syndrome-de-silver-russell
  • isolated-polycystic-liver-disease
  • 10q22.3q23.3-microdeletion-syndrome
  • syndrome-d'usher-type-1
  • icd10-h00–h59
  • rare-cardiac-disease
  • icd10-j00–j99
  • icd10-q00–q96
  • 7q11.23-microduplication-syndrome
  • atypical-rett-syndrome
  • kostmann-syndrome
  • de-barsy-syndrome
  • autosomal-recessive-multiple-pterygium-syndrome
  • moebius-syndrome
  • syndrome-de-microduplication-19p13.3
  • atypical-hemolytic-uremic-syndrome
  • congenital-and-infantile-nephrotic-syndrome
  • mandibular-hypoplasia-deafness-progeroid-features-lipodystrophy-syndrome
  • rare-neurologic-disease
  • crouzon-disease
  • goldenhar-syndrome
  • syndrome-de-turner-par-anomalies-de-structure-du-chromosome-x
  • chédiak-higashi-syndrome
  • syndrome-d'insensibilité-à-l'hormone-de-croissance
  • dyrk1a-related-intellectual-disability-syndrome
  • icd10-c00–d48
  • 2q37-microdeletion-syndrome
  • syndrome-de-prader-willi-like-associé-à-magel2
  • mend-syndrome
  • inclusion-body-myopathy-with-paget-disease-of-bone-and-frontotemporal-dementia
  • syndrome-de-senior-loken
  • syndrome-de-hallermann-streiff
  • syndrome-de-microduplication-17p11.2
  • syndrome-d'adams-oliver
  • syndrome-de-poland
  • autoimmune-hemolytic-anemia-autoimmune-thrombocytopenia-primary-immunodeficiency-syndrome
  • hypotonia-cystinuria-syndrome
  • buschke-ollendorff-syndrome
  • syndrome-d'alagille
  • syndrome-de-joubert
  • syndrome-de-beckwith-wiedemann-dû-à-un-défaut-d'empreinte-de-la-région-11p15
  • syndrome-associated-with-hypertrophic-cardiomyopathy
  • syndrome-de-microdélétion-1p21.3
  • 16p11.2p12.2-microdeletion-syndrome
  • ehlers-danlos-syndrome
  • syndrome-d'aarskog-scott
  • coffin-siris-syndrome
  • 3q29-microduplication-syndrome
  • syndrome-de-microduplication-xp11.22p11.23
  • syndrome-du-chromosome-20-en-anneau
  • syndrome-de-l'x-fragile
  • rubinstein-taybi-syndrome
  • rare-genetic-disease
  • syndrome-d'ellis-van-creveld
  • syndrome-de-microduplication-22q11.2
  • syndrome-acro-réno-oculaire
  • icd10-a00–b99
  • syndrome-adnp
  • syndrome-de-pendred
  • ring-chromosome-22-syndrome
  • syndrome-de-pitt-hopkins
  • syndrome-de-nance-horan
  • peho-syndrome
  • syndrome-de-townes-brocks
  • autosomal-dominant-charcot-marie-tooth-disease-type-2-due-to-kif5a-mutation
  • silver-russell-syndrome
  • syndrome-de-bannayan-riley-ruvalcaba
  • 7p22.1-microduplication-syndrome
  • syndrome-d'alpers-huttenlocher
  • behçet-disease
  • 16p11.2p12.2-microduplication-syndrome
  • x-linked-charcot-marie-tooth-disease-type-1
  • 1p36-deletion-syndrome
  • x-linked-charcot-marie-tooth-disease-type-2
  • syndrome-d'anomalies-oculaires-neuropathie-axonale-retard-de-développement
  • li-fraumeni-syndrome
  • immunodeficiency-syndrome-with-autoimmunity
  • proximal-16p11.2-microduplication-syndrome
  • hyaline-fibromatosis-syndrome
  • brain-lung-thyroid-syndrome
  • syndrome-myasthénique-congénital
  • syndrome-de-microduplication-22q11.2-distale
  • charcot-marie-tooth-disease-type-1a
  • mayer-rokitansky-küster-hauser-syndrome
  • rare-gastroenterologic-disease
  • syndrome-d'emanuel
  • syndrome-de-microduplication-3q29
  • short-rib-polydactyly-syndrome
  • 17q12-microduplication-syndrome
  • syndrome-de-déficience-intellectuelle-retard-de-développement-contractures
  • syndrome-hanac
  • syndrome-de-roberts
  • 1q44-microdeletion-syndrome
  • syndrome-de-prader-willi-dû-à-une-délétion-15q11q13-d'origine-paternelle
  • epidermal-nevus-syndrome
  • syndrome-de-dysostose-mandibulo-faciale-microcéphalie
  • klinefelter-syndrome
  • syndrome-de-délétion-1p36
  • syndrome-de-beckwith-wiedemann
  • syndrome-charge
  • distal-xq28-microduplication-syndrome
  • auriculocondylar-syndrome
  • syndrome-de-troubles-sévères-de-l'alimentation-retard-staturo-pondéral-microcéphalie-par-déficit-en-asxl3
  • ahdc1-related-intellectual-disability-obstructive-sleep-apnea-mild-dysmorphism-syndrome
  • syndrome-d'ataxie-neuropathique-sensorielle-dysarthrie-ophtalmoplégie
  • noonan-syndrome-like-disorder-with-loose-anagen-hair
  • syndrome-de-déficience-intellectuelle-trouble-sévère-du-langage-dysmorphie-modérée
  • williams-syndrome
  • x-linked-intellectual-disability-hypotonia-facial-dysmorphism-aggressive-behavior-syndrome
  • niemann-pick-disease-type-c
  • autosomal-ichthyosis-syndrome
  • syndrome-de-floating-harbor
  • bohring-opitz-syndrome
  • classical-ehlers-danlos-syndrome
  • syndrome-de-buschke-ollendorff
  • syndrome-kbg
  • syndrome-de-klippel-feil-isolé
  • ectrodactyly-polydactyly-syndrome
  • syndrome-de-mowat-wilson-dû-à-une-monosomie-2q22
  • syndrome-de-microdélétion-16p11.2-distale
  • costello-syndrome
  • congenital-nephrotic-syndrome-finnish-type
  • syndrome-de-tibia-aplasique-ectrodactylie
  • 15q11q13-microduplication-syndrome
  • syndrome-de-microdélétion-1q44
  • icd10-p00–p96
  • wiedemann-steiner-syndrome
  • syndrome-de-currarino
  • vascular-ehlers-danlos-syndrome
  • syndrome-de-microdélétion-16p11.2p12.2
  • 1p21.3-microdeletion-syndrome
  • syndrome-de-feingold
  • rare-neurologic-disease-with-psychiatric-involvement
  • kearns-sayre-syndrome
  • syndrome-de-mowat-wilson
  • nail-patella-syndrome
  • feingold-syndrome
  • syndrome-de-van-der-woude
  • maffucci-syndrome
  • pura-related-severe-neonatal-hypotonia-seizures-encephalopathy-syndrome
  • ring-chromosome-18-syndrome
  • linear-nevus-sebaceus-syndrome
  • icd10-n00–n99
  • syndrome-de-trismus-pseudocamptodactylie
  • syndrome-noonan-like-avec-cheveux-anagènes-caducs
  • joubert-syndrome
  • syndrome-de-déficience-intellectuelle-liée-à-l'x-hypotonie-dysmorphie-faciale-comportement-agressif
  • rothmund-thomson-syndrome
  • proteus-syndrome
  • autosomal-dominant-charcot-marie-tooth-disease-type-2j
  • cardiofaciocutaneous-syndrome
  • syndrome-de-hurler
  • syndrome-du-chromosome-18-en-anneau
  • syndrome-de-pierre-robin-isolé
  • apert-syndrome
  • stüve-wiedemann-syndrome
  • optic-atrophy-peripheral-neuropathy-developmental-delay-syndrome
  • syndrome-de-bohring-opitz
  • syndrome-de-microdélétion-1q21.1
  • syndrome-de-déficience-intellectuelle-diplégie-spastique-progressive
  • blepharophimosis-epicanthus-inversus-ptosis-syndrome
  • mme-related-autosomal-dominant-charcot-marie-tooth-disease-type-2
  • aneurysm-osteoarthritis-syndrome
  • ulnar-mammary-syndrome
  • syndrome-de-mccune-albright
  • syndrome-d'amélogenèse-imparfaite-néphrocalcinose
  • 6q-terminal-deletion-syndrome
  • 1q21.1-microdeletion-syndrome
  • developmental-delay-facial-dysmorphism-syndrome-due-to-med13l-deficiency
  • cowden-syndrome
  • syndrome-de-microduplication-16p11.2p12.2
  • central-core-disease
  • fragile-x-associated-tremor-ataxia-syndrome
  • syndrome-kabuki
  • sickle-cell-hemoglobin-ss-disease
  • syndrome-mend
  • syndrome-de-stickler-autosomique-récessif
  • intellectual-disability-cardiac-anomalies-short-stature-joint-laxity-syndrome
  • noonan-syndrome-like-disorder-with-juvenile-myelomonocytic-leukemia
  • neuromuscular-disease
  • 3q29-microdeletion-syndrome
  • fragile-x-syndrome
  • syndrome-d'agénesie-du-corps-calleux-neuropathie
  • 15q13.3-microdeletion-syndrome
  • syndrome-de-stickler-type-2
  • pendred-syndrome
  • syndrome-d'ehlers-danlos-vasculaire
  • syndrome-myéloprolifératif-transitoire
  • gaucher-disease
  • syndrome-de-duane
  • intellectual-disability-feeding-difficulties-developmental-delay-microcephaly-syndrome
  • poland-syndrome
  • mowat-wilson-syndrome
  • wilson-disease
  • syndrome-de-stickler
  • syndrome-de-microdélétion-15q24
  • primary-fanconi-syndrome
  • syndrome-d'axenfeld-rieger
  • 22q11.2-deletion-syndrome
  • syndrome-des-ptérygiums-multiples-autosomique-récessif
  • syndrome-de-kagami-ogata-lié-à-une-disomie-uniparentale-paternelle-du-chromosome-14
  • glycogen-storage-disease-due-to-phosphoglycerate-kinase-1-deficiency
  • hypermobile-ehlers-danlos-syndrome
  • x-linked-alport-syndrome-diffuse-leiomyomatosis
  • enamel-renal-syndrome
  • syndrome-de-feingold-type-2
  • icd10-h60–h95

Topics

  • HEAL

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