A rare developmental defect during embryogenesis with characteristics of variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malfo

SNOMEDCT-BE (disorder) / 766765009

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JS-R - Joubert syndrome with renal defect

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Joubert syndrome with renal defect (disorder)

SNOMEDCT-BE (disorder) / 716999001

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syndrome oculo-rénal

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Drobin's syndrome

SNOMEDCT-CA (trouble) / 236451007

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syndrome rétino-hépato-endocrinologique

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Syndrome that is characterized by total color blindness caused by progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females fr

SNOMEDCT-BE (disorder) / 724000006

SNOMEDCT-BE (hypothyroidism, diabetes, repeated abortions or infertility). It has been described in six females fr / 724000006

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Modificateurs Les subdivisions suivantes peuvent être utilisées comme quatrième chiffre avec les rubriques E10-E14: Code Titre .0 Avec coma Coma:diabétique, avec ou sans acidocétose:hyperglycémique | hyperosmolaire | hyperglycémique SAI | .1 Avec acidocétose Acidocétose | Acidose | diabétique, sans mention de coma | .2+ Avec complications rénales Glomérulonéphrite intracapillaire (N08.3*) Néphropathie diabétique (N08.3*) Syndrome de Kimmelstiel-Wilson (N08.3*) .3+ Avec complications oculaires Cataracte (H28.0*) | Rétinopathie (H36.0*) | diabétique | .4+ Avec complications neurologiques Amyotrophie (G73.0*) | Mononévrite (G59.0*) | Neurop ...[+++]

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Modifiers The following fourth-character subdivisions are for use with categories E10-E14: Code Title .0 With coma Diabetic:coma with or without ketoacidosis | hyperosmolar coma | hypoglycaemic coma | Hyperglycaemic coma NOS .1 With ketoacidosis Diabetic:acidosis | ketoacidosis | without mention of coma | .2+ With renal complications Diabetic nephropathy (N08.3*) Intracapillary glomerulonephrosis (N08.3*) Kimmelstiel-Wilson syndrome (N08.3*) .3+ With ophthalmic complications Diabetic:cataract (H28.0*) | retinopathy (H36.0*) | .4+ With neurological complications Diabetic:amyotrophy (G73.0*) | autonomic neuropathy (G99.0*) | mononeuropathy ...[+++]

WORLD HEALTH ORGANIZATION ICD-10: E10-E14

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syndrome thyro-cérébro-rénal

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Cutler Bass Romshe syndrome

SNOMEDCT-BE (disorder) / 733096007

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syndrome facio-cardio-rénal

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Eastman Bixler syndrome