Congenital hypothyroidism   190268003

SNOMED CT code


SNOMED code190268003
nameCongenital hypothyroidism
statusactive
date introduced2002-01-31
fully specified name(s)Congenital hypothyroidism (disorder)
synonymsCongenital hypothyroidism
attributes - group1
Finding siteThyroid structure   69748006
OccurrenceCongenital   255399007
parents
children
  • Athyrotic hypothyroidism sequence   55838005
  • Bamforth Lazarus syndrome   722375007
  • Congenital central hypothyroidism   722938007
  • Congenital hypothyroidism due to absence of thyroid gland   718690009
  • Congenital hypothyroidism due to congenital anomaly of thyroid gland   1179404005
  • Congenital hypothyroidism due to dual oxidase maturation factor 2   1179400001
  • Congenital hypothyroidism due to iodine deficiency   722939004
  • Congenital hypothyroidism due to maternal intake of antithyroid drug   783177006
  • Congenital hypothyroidism due to peripheral resistance to thyroid hormone   1179401002
  • Congenital hypothyroidism due to symporter mutation   1179397005
  • Congenital hypothyroidism due to thyroglobulin mutation   1179399008
  • Congenital hypothyroidism due to thyroid deiodinase mutation   1179396001
  • Congenital hypothyroidism due to thyroid peroxidase mutation   1179394003
  • Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody   717333002
  • Congenital hypothyroidism NOS   267376007  removed: 2010-01-31
  • Congenital hypothyroidism with diffuse goiter   278503003
  • Congenital hypothyroidism without goiter   237515009
  • Dyshormonogenic goiter   190304001
  • Familial thyroid dyshormonogenesis   718183003
  • Genetic transient congenital hypothyroidism   770631009
  • Hypothyroidism due to defect in thyroid hormone synthesis   56041007
  • Hypothyroidism due to iodide trapping defect   237555006
  • Hypothyroidism due to mutation in transcription factor of pituitary development   718194004
  • Idiopathic congenital hypothyroidism   717334008
  • Iodide oxidation defect   52724003
  • Iodide transport defect   22558005
  • Myxedematous form of cretinism   64491003
  • Neonatal jaundice with congenital hypothyroidism   206457007
  • Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome   722051004
  • Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant   699298009
  • Other specified congenital hypothyroidism   190270007  removed: 2010-01-31
  • Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha   1260240000
  • Short stature with delayed bone age due to thyroid hormone metabolism deficiency   763890006
  • Sporadic cretinism   84781002
  • Thyroid hormone responsiveness defect   50375007
  • Transient congenital hypothyroidism due to dual oxidase 2 mutation   1142106007
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of neck   118939000
        Disorder of thyroid gland   14304000
          Hypothyroidism   40930008
            Congenital hypothyroidism   190268003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hypothyroidism   190268003

ancestors
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