Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation   1230272009

SNOMED CT code


SNOMED code1230272009
nameCongenital hypothyroidism due to thyroid stimulating hormone receptor mutation
statusactive
date introduced2022-06-30
fully specified name(s)Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation (disorder)
synonyms
  • Hypothyroidism due to TSH receptor mutation
  • Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation
  • Hypothyroidism due to TSHR (thyroid stimulating hormone receptor) mutation
attributes - group1
OccurrenceCongenital   255399007
Finding siteThyroid structure   69748006
parents
  • Autosomal hereditary disorder   1899006
  • Thyroid hormone responsiveness defect   50375007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation   1230272009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hypothyroidism   190268003
          Thyroid hormone responsiveness defect   50375007
            Congenital hypothyroidism due to thyroid stimulating hormone receptor mutation   1230272009

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