usher syndromes

Preferred Label : usher syndromes;

MeSH definition : Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.;

MeSH synonym : syndrome, usher; syndromes, usher; usher syndrome; retinitis Pigmentosa-Deafness syndrome; retinitis pigmentosa deafness syndrome; retinitis Pigmentosa-Deafness syndromes; syndrome, retinitis Pigmentosa-Deafness; syndromes, retinitis Pigmentosa-Deafness; Deafness-Retinitis pigmentosa syndrome; deafness retinitis pigmentosa syndrome; Deafness-Retinitis pigmentosa syndromes; pigmentosa syndromes, Deafness-Retinitis; syndrome, Deafness-Retinitis pigmentosa; syndromes, Deafness-Retinitis pigmentosa; Graefe-Usher syndrome; graefe usher syndrome; syndrome, Graefe-Usher; hallgren syndrome; syndrome, hallgren; usher's syndrome; syndrome, usher's; ushers syndrome; dystrophia retinae Pigmentosa-Dysostosis syndrome; dystrophia retinae pigmentosa dysostosis syndrome;

CISMeF synonym : Usher;

MeSH hyponym : usher syndrome, type I; usher syndrome, type III; usher syndrome, type II; Usher Syndrome, Type 3; Usher Syndrome, Type 1A; Retinitis Pigmentosa And Congenital Deafness; Usher Syndrome, Type 1; Usher Syndrome, Type I, French Variety; Usher Syndrome, Type IId;

Wikipedia link : https://en.wikipedia.org/wiki/Usher syndromes;

Details

Origin ID

D052245;

UMLS CUI

C0271097;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Retinitis pigmentosa-deafness-ataxia syndrome (disorder) [SNOMED CT concept]
- Usher syndrome [OMIM phenotypic series]
- Usher syndrome type 2D [DO Concept]
- Usher syndrome, type iid [OMIM Phenotype]
- Usher syndrome, type iiia [OMIM Phenotype]
Currated CISMeF NLP mapping
- Retinitis pigmentosa-deafness syndrome [OMIM Phenotype]
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Retinitis pigmentosa-deafness syndrome type 3 (disorder) [SNOMED CT concept]
- Usher Syndrome [NCIt concept]
- Usher Syndrome Type 2 [NCIt concept]
- Usher syndrome [PASCAL descriptor]
- Usher syndrome [DO Concept]
- Usher syndrome [Disease (Nov.)]
- Usher syndrome [ICD-11 Subcategory]
- Usher syndrome [ORDO Disease]
- Usher syndrome type 1 [ICD-11 More detail]
- Usher syndrome type 1 [ORDO Disease]
- Usher syndrome type 1 (disorder) [SNOMED CT concept]
- Usher syndrome type 2 [ICD-11 More detail]
- Usher syndrome type 2 [ORDO Disease]
- Usher syndrome type 2 (disorder) [SNOMED CT concept]
- Usher syndrome type 3 [ICD-11 More detail]
- Usher syndrome type 3 [ORDO Disease]
- Usher syndrome, type I [OMIM Phenotype]
- Usher's syndrome [MedDRA Preferred Term]
- retinitis pigmentosa-deafness syndrome [DO Concept]
- retinitis pigmentosa-deafness syndrome [SNOMED Notion]
- usher syndrome [MedlinePlus Topic]
DO Cross reference
- Usher syndrome [DO Concept]
- Usher syndrome type 2 [DO Concept]
- Usher syndrome type 3 [DO Concept]
- retinitis pigmentosa-deafness syndrome [DO Concept]
Has phenotype(s) (HPO)
- Congenital conductive deafness [HPO term]
- Congenital sensorineural deafness [HPO term]
- Progressive retinitis pigmentosa [HPO term]
- Sensorineural deafness [HPO term]
Indexing information
- sans protein, mouse [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- Inherited retinal disorder [ORDO Disease]
- Retinal ciliopathy due to mutation in Usher gene [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic rod-cone dystrophy [ORDO Disease]
MedlinePlus topic(s)
- usher syndrome [MedlinePlus Topic]
ORDO relation(s)
- Usher syndrome [ORDO Disease]
Record concept(s)
- usher syndrome, type I [MeSH concept]
- usher syndrome, type II [MeSH concept]
- usher syndrome, type III [MeSH concept]
- usher syndromes [MeSH concept]
Related MeSH Supplementary Concept(s)
- Usher Syndrome, Type ID-F [MeSH Supplementary Concept]
- usher syndrome, type 1B [MeSH Supplementary Concept]
- usher syndrome, type 1C [MeSH Supplementary Concept]
- usher syndrome, type 1D [MeSH Supplementary Concept]
- usher syndrome, type 1E [MeSH Supplementary Concept]
- usher syndrome, type 1F [MeSH Supplementary Concept]
- usher syndrome, type 2A [MeSH Supplementary Concept]
- usher syndrome, type 2B [MeSH Supplementary Concept]
- usher syndrome, type 2C [MeSH Supplementary Concept]
- usher syndrome, type IC [MeSH Supplementary Concept]
- usher syndrome, type ID [MeSH Supplementary Concept]
- usher syndrome, type IE [MeSH Supplementary Concept]
- usher syndrome, type IF [MeSH Supplementary Concept]
- usher syndrome, type IG [MeSH Supplementary Concept]
- usher syndrome, type IH [MeSH Supplementary Concept]
- usher syndrome, type ib [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Retinitis pigmentosa-deafness syndrome [OMIM Phenotype]
- Retinitis pigmentosa-deafness syndrome (disorder) [SNOMED CT concept]
- Retinitis pigmentosa-deafness-ataxia syndrome (disorder) [SNOMED CT concept]
- Usher Syndrome [NCIt concept]
- Usher syndrome [ORDO Disease]
- Usher syndrome [DO Concept]
- Usher syndrome [Disease (Nov.)]
- Usher's syndrome [MedDRA Preferred Term]
- retinitis pigmentosa-deafness syndrome [SNOMED Notion]
- retinitis pigmentosa-deafness-ataxia syndrome [SNOMED Notion]
- usher syndrome [MedlinePlus Topic]
Validated automatic mappings to BTNT
- Usher Syndrome Type 1 [NCIt concept]
- Usher Syndrome Type 3 [NCIt concept]
- Usher syndrome type 1 [DO Concept]
- Usher syndrome type 3 [DO Concept]
- Usher syndrome type I [Disease (Nov.)]
- Usher syndrome type II [Disease (Nov.)]
- Usher syndrome type III [Disease (Nov.)]
- Usher syndrome type IId [Disease (Nov.)]

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