UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM - Terms starting with ‘H’

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UMLS. CSP-HL7-ICD9CM-NCI-NDFRT-RXNORM

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1. Usher syndrome: [hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked. ( CSP )] (UMLS (CSP) C0271097) =Congenital Abnormality; Disease or Syndrome =Genetic Condition;
retinitis pigmentosa;
congenital deafness;

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