Hereditary retinal dystrophy

Preferred Label : Hereditary retinal dystrophy;

ICD-10 exclusion note : dystrophies primarily involving Bruch's membrane (H31.1-);

Diag associé à un acte (%) : 91.5;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

H355;

UMLS CUI

C0154860;

Currated CISMeF NLP mapping
- Hereditary Retinal Dystrophy [NCIt concept]
- Hereditary retinal dystrophies [MedDRA LLT]
- Hereditary retinal dystrophies [ICD-9 code]
- Hereditary retinal dystrophy [MedDRA Preferred Term]
- Hereditary retinal dystrophy [ICD-10 Sub-category (who)]
- Hereditary retinal dystrophy (disorder) [SNOMED CT concept]
- Hereditary retinal dystrophy, unspecified [MedDRA LLT]
- Hereditary retinal dystrophy, unspecified [ICD-9 code]
- Inherited retinal dystrophies [ICD-11 Category]
- hereditary retinal dystrophy [Disease (Nov.)]
- hereditary retinal dystrophy [DO Concept]
- hereditary retinal dystrophy, nos [SNOMED Notion]
DO Cross reference
- Doyne honeycomb retinal dystrophy [DO Concept]
- Leber congenital amaurosis 1 [DO Concept]
- Leber congenital amaurosis 10 [DO Concept]
- Leber congenital amaurosis 11 [DO Concept]
- Leber congenital amaurosis 12 [DO Concept]
- Leber congenital amaurosis 13 [DO Concept]
- Leber congenital amaurosis 14 [DO Concept]
- Leber congenital amaurosis 15 [DO Concept]
- Leber congenital amaurosis 16 [DO Concept]
- Leber congenital amaurosis 17 [DO Concept]
- Leber congenital amaurosis 2 [DO Concept]
- Leber congenital amaurosis 3 [DO Concept]
- Leber congenital amaurosis 4 [DO Concept]
- Leber congenital amaurosis 5 [DO Concept]
- Leber congenital amaurosis 6 [DO Concept]
- Leber congenital amaurosis 7 [DO Concept]
- Leber congenital amaurosis 8 [DO Concept]
- Leber congenital amaurosis 9 [DO Concept]
- Usher syndrome type 1 [DO Concept]
- Usher syndrome type 1C [DO Concept]
- Usher syndrome type 1D [DO Concept]
- Usher syndrome type 1E [DO Concept]
- Usher syndrome type 1F [DO Concept]
- Usher syndrome type 1G [DO Concept]
- Usher syndrome type 1H [DO Concept]
- Usher syndrome type 1J [DO Concept]
- Usher syndrome type 1K [DO Concept]
- Usher syndrome type 2A [DO Concept]
- Usher syndrome type 2C [DO Concept]
- Usher syndrome type 2D [DO Concept]
- Usher syndrome type 3A [DO Concept]
- Usher syndrome type 3B [DO Concept]
- autosomal recessive pericentral pigmentary retinopathy [DO Concept]
- basal laminar drusen [DO Concept]
- cone-rod dystrophy [DO Concept]
- dominant pericentral pigmentary retinopathy [DO Concept]
- hereditary retinal dystrophy [DO Concept]
- late-adult onset retinitis pigmentosa [DO Concept]
- patterned macular dystrophy [DO Concept]
- retinitis pigmentosa 1 [DO Concept]
- retinitis pigmentosa 10 [DO Concept]
- retinitis pigmentosa 11 [DO Concept]
- retinitis pigmentosa 12 [DO Concept]
- retinitis pigmentosa 13 [DO Concept]
- retinitis pigmentosa 14 [DO Concept]
- retinitis pigmentosa 17 [DO Concept]
- retinitis pigmentosa 18 [DO Concept]
- retinitis pigmentosa 19 [DO Concept]
- retinitis pigmentosa 2 [DO Concept]
- retinitis pigmentosa 20 [DO Concept]
- retinitis pigmentosa 22 [DO Concept]
- retinitis pigmentosa 23 [DO Concept]
- retinitis pigmentosa 24 [DO Concept]
- retinitis pigmentosa 25 [DO Concept]
- retinitis pigmentosa 26 [DO Concept]
- retinitis pigmentosa 27 [DO Concept]
- retinitis pigmentosa 28 [DO Concept]
- retinitis pigmentosa 29 [DO Concept]
- retinitis pigmentosa 3 [DO Concept]
- retinitis pigmentosa 30 [DO Concept]
- retinitis pigmentosa 31 [DO Concept]
- retinitis pigmentosa 32 [DO Concept]
- retinitis pigmentosa 33 [DO Concept]
- retinitis pigmentosa 34 [DO Concept]
- retinitis pigmentosa 35 [DO Concept]
- retinitis pigmentosa 36 [DO Concept]
- retinitis pigmentosa 37 [DO Concept]
- retinitis pigmentosa 38 [DO Concept]
- retinitis pigmentosa 39 [DO Concept]
- retinitis pigmentosa 4 [DO Concept]
- retinitis pigmentosa 40 [DO Concept]
- retinitis pigmentosa 41 [DO Concept]
- retinitis pigmentosa 42 [DO Concept]
- retinitis pigmentosa 43 [DO Concept]
- retinitis pigmentosa 44 [DO Concept]
- retinitis pigmentosa 45 [DO Concept]
- retinitis pigmentosa 46 [DO Concept]
- retinitis pigmentosa 47 [DO Concept]
- retinitis pigmentosa 48 [DO Concept]
- retinitis pigmentosa 49 [DO Concept]
- retinitis pigmentosa 50 [DO Concept]
- retinitis pigmentosa 51 [DO Concept]
- retinitis pigmentosa 54 [DO Concept]
- retinitis pigmentosa 55 [DO Concept]
- retinitis pigmentosa 56 [DO Concept]
- retinitis pigmentosa 57 [DO Concept]
- retinitis pigmentosa 58 [DO Concept]
- retinitis pigmentosa 59 [DO Concept]
- retinitis pigmentosa 6 [DO Concept]
- retinitis pigmentosa 60 [DO Concept]
- retinitis pigmentosa 61 [DO Concept]
- retinitis pigmentosa 62 [DO Concept]
- retinitis pigmentosa 63 [DO Concept]
- retinitis pigmentosa 66 [DO Concept]
- retinitis pigmentosa 67 [DO Concept]
- retinitis pigmentosa 68 [DO Concept]
- retinitis pigmentosa 69 [DO Concept]
- retinitis pigmentosa 7 [DO Concept]
- retinitis pigmentosa 70 [DO Concept]
- retinitis pigmentosa 71 [DO Concept]
- retinitis pigmentosa 72 [DO Concept]
- retinitis pigmentosa 73 [DO Concept]
- retinitis pigmentosa 74 [DO Concept]
- retinitis pigmentosa 75 [DO Concept]
- retinitis pigmentosa 77 [DO Concept]
- retinitis pigmentosa 9 [DO Concept]
- retinitis pigmentosa Y-linked [DO Concept]
- retinitis pigmentosa with or without situs inversus [DO Concept]
- vitelliform macular dystrophy [DO Concept]
Excluded by
- Other congenital malformations of eye [ICD-10 category]
Manual NTBT mappings (CISMeF)
- Retinitis punctata albescens [ORDO Disease]
Orphanet concepts
- Adult-onset foveomacular vitelliform dystrophy [ORDO Disease]
- Amaurosis-hypertrichosis syndrome [ORDO Disease]
- Atypical Norrie disease due to Xp11.3 microdeletion [ORDO Disease]
- Autosomal dominant vitreoretinochoroidopathy [ORDO Disease]
- Autosomal recessive bestrophinopathy [ORDO Disease]
- Benign concentric annular macular dystrophy [ORDO Disease]
- Best vitelliform macular dystrophy [ORDO Disease]
- Bothnia retinal dystrophy [ORDO Disease]
- Butterfly-shaped pigment dystrophy [ORDO Disease]
- Cone dystrophy with supernormal rod response [ORDO Disease]
- Cone rod dystrophy [ORDO Disease]
- Cystoid macular dystrophy [ORDO Disease]
- Familial benign flecked retina [ORDO Disease]
- Familial drusen [ORDO Disease]
- Familial flecked retinopathy [ORDO Disease]
- Fundus albipunctatus [ORDO Disease]
- Fundus pulverulentus [ORDO Disease]
- Genetic macular dystrophy [ORDO Disease]
- Goldmann-Favre syndrome [ORDO Disease]
- Idiopathic macular telangiectasia type 1 [ORDO Disease]
- Idiopathic macular telangiectasia type 3 [ORDO Disease]
- Jalili syndrome [ORDO Disease]
- Joubert syndrome with ocular defect [ORDO Disease]
- Kandori fleck retina [ORDO Disease]
- Late-onset retinal degeneration [ORDO Disease]
- Leber congenital amaurosis [ORDO Disease]
- MRCS syndrome [ORDO Disease]
- Martinique crinkled retinal pigment epitheliopathy [ORDO Disease]
- Multifocal pattern dystrophy simulating fundus flavimaculatus [ORDO Disease]
- Norrie disease [ORDO Disease]
- North Carolina macular dystrophy [ORDO Disease]
- Occult macular dystrophy [ORDO Disease]
- Partial color blindness, deutan type [ORDO Disease]
- Pattern dystrophy [ORDO Disease]
- Pigmented paravenous retinochoroidal atrophy [ORDO Disease]
- Progressive cone dystrophy [ORDO Disease]
- Progressive retinal dystrophy due to retinol transport defect [ORDO Disease]
- Reticular dystrophy of the retinal pigment epithelium [ORDO Disease]
- Retinal degeneration-nanophthalmos-glaucoma syndrome [ORDO Disease]
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies [ORDO Disease]
- Retinal macular dystrophy type 2 [ORDO Disease]
- Retinitis pigmentosa [ORDO Disease]
- Retinitis punctata albescens [ORDO Disease]
- Severe early-childhood-onset retinal dystrophy [ORDO Disease]
- Snowflake vitreoretinal degeneration [ORDO Disease]
- Sorsby pseudoinflammatory fundus dystrophy [ORDO Disease]
- Stargardt disease [ORDO Disease]
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 2 [ORDO Disease]
- Usher syndrome type 3 [ORDO Disease]
- Vitreoretinal degeneration [ORDO Disease]
- Wagner disease [ORDO Disease]
- X-linked intellectual disability-retinitis pigmentosa syndrome [ORDO Disease]
- Åland Islands eye disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Retinal Dystrophy [NCIt concept]
- Hereditary retinal dystrophies [MedDRA LLT]
- Hereditary retinal dystrophies [ICD-9 code]
- Hereditary retinal dystrophy [MedDRA Preferred Term]
- Hereditary retinal dystrophy (disorder) [SNOMED CT concept]
- Hereditary retinal dystrophy, unspecified [MedDRA LLT]
- Hereditary retinal dystrophy, unspecified [ICD-9 code]
- Inherited retinal dystrophies [ICD-11 Category]
- hereditary retinal dystrophy [DO Concept]
- hereditary retinal dystrophy [Disease (Nov.)]
- hereditary retinal dystrophy, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Leber congenital amaurosis 4 [DO Concept]
- Leber congenital amaurosis 7 [DO Concept]
- Usher syndrome type 1C [DO Concept]
- cone-rod dystrophy [DO Concept]
- retinitis pigmentosa 11 [DO Concept]
- retinitis pigmentosa 75 [DO Concept]
- retinitis pigmentosa Y-linked [DO Concept]

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