Congenital hypothyroidism 190268003 SNOMED CT code SNOMED code 190268003 name Congenital hypothyroidism status active date introduced 2002-01-31 fully specified name(s) Congenital hypothyroidism (disorder) synonyms Congenital hypothyroidism attributes - group1 Finding site Thyroid structure 69748006 Occurrence Congenital 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 sorted most to least specific
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