ValueSet-2.16.840.1.113762.1.4.1146.2153

Sourceus.nlm.vsac#0.11.0:null (v4.0.1)
resourceTypeValueSet
id2.16.840.1.113762.1.4.1146.2153
canonicalhttp://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2153
version20230122
statusactive
publisherCSTE Steward
namePrimaryCongenitalHypothyroidismDisordersSNOMED
titlePrimary Congenital Hypothyroidism (Disorders) (SNOMED)
date2023-01-22T01:03:33-05:00
Usages(none)

This value set contains 19 concepts

Code System Display
   1179394003 http://snomed.info/sct Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)
   1179396001 http://snomed.info/sct Congenital hypothyroidism due to thyroid deiodinase mutation (disorder)
   1179397005 http://snomed.info/sct Congenital hypothyroidism due to symporter mutation (disorder)
   1179399008 http://snomed.info/sct Congenital hypothyroidism due to thyroglobulin mutation (disorder)
   1179400001 http://snomed.info/sct Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)
   1179404005 http://snomed.info/sct Congenital hypothyroidism due to congenital anomaly of thyroid gland (disorder)
   190304001 http://snomed.info/sct Dyshormonogenic goiter (disorder)
   215677009 http://snomed.info/sct Congenital hypothyroidism with ectopic thyroid (disorder)
   22558005 http://snomed.info/sct Iodide transport defect (disorder)
   237555006 http://snomed.info/sct Hypothyroidism due to iodide trapping defect (disorder)
   52724003 http://snomed.info/sct Iodide oxidation defect (disorder)
   55838005 http://snomed.info/sct Athyrotic hypothyroidism sequence (disorder)
   56041007 http://snomed.info/sct Hypothyroidism due to defect in thyroid hormone synthesis (disorder)
   717334008 http://snomed.info/sct Idiopathic congenital hypothyroidism (disorder)
   718183003 http://snomed.info/sct Familial thyroid dyshormonogenesis (disorder)
   718690009 http://snomed.info/sct Congenital hypothyroidism due to absence of thyroid gland (disorder)
   719098007 http://snomed.info/sct Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)
   722375007 http://snomed.info/sct Bamforth Lazarus syndrome (disorder)
   724094005 http://snomed.info/sct Neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatic fibrosis, polycystic kidney syndrome (disorder)

Produced 08 Sep 2023