FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

190268003: Congenital hypothyroidism (disorder)

Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
292373016 Congenital hypothyroidism en Synonym Active Case insensitive SNOMED CT core
573826012 Congenital hypothyroidism (disorder) en Fully specified name Active Case insensitive SNOMED CT core

55 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital hypothyroidism Finding site Thyroid structure true Inferred relationship Some 1
Congenital hypothyroidism Is a Congenital anomaly of endocrine gland false Inferred relationship Some
Congenital hypothyroidism Is a Congenital anomaly of neck false Inferred relationship Some
Congenital hypothyroidism Is a Hypothyroidism true Inferred relationship Some
Congenital hypothyroidism Is a Congenital disease true Inferred relationship Some
Congenital hypothyroidism Occurrence Congenital true Inferred relationship Some 1
Congenital hypothyroidism Finding site Entire endocrine gonad false Inferred relationship Some
Congenital hypothyroidism Finding site Thyroid structure false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypothyroidism due to maternal intake of antithyroid drug Is a True Congenital hypothyroidism Inferred relationship Some
Blepharophimosis-intellectual disability syndrome, SBBYS type Is a True Congenital hypothyroidism Inferred relationship Some
Hypothyroidism due to iodide trapping defect Is a True Congenital hypothyroidism Inferred relationship Some
Transient congenital hypothyroidism due to dual oxidase 2 mutation Is a True Congenital hypothyroidism Inferred relationship Some
Dyshormonogenic goitre Is a True Congenital hypothyroidism Inferred relationship Some
Suspected congenital hypothyroidism Associated finding True Congenital hypothyroidism Inferred relationship Some 1
Congenital hypothyroidism due to congenital anomaly of thyroid gland Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to dual oxidase maturation factor 2 Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to peripheral resistance to thyroid hormone Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to thyroglobulin mutation Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to thyroid peroxidase mutation Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to thyroid deiodinase mutation Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to symporter mutation Is a True Congenital hypothyroidism Inferred relationship Some
Neonatal jaundice with congenital hypothyroidism Due to True Congenital hypothyroidism Inferred relationship Some 1
Neonatal jaundice with congenital hypothyroidism Is a True Congenital hypothyroidism Inferred relationship Some
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha Is a True Congenital hypothyroidism Inferred relationship Some
Neonatal jaundice with congenital hypothyroidism Associated with False Congenital hypothyroidism Inferred relationship Some 1
Sporadic cretinism Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism screening test Has focus False Congenital hypothyroidism Inferred relationship Some 1
Congenital hypothyroidism screening test Has focus True Congenital hypothyroidism Inferred relationship Some 2
Other specified congenital hypothyroidism Is a False Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism NOS Is a False Congenital hypothyroidism Inferred relationship Some
Iodotyrosine deiodination defect Is a False Congenital hypothyroidism Inferred relationship Some
Endemic cretinism Is a False Congenital hypothyroidism Inferred relationship Some
Iodide oxidation defect Is a True Congenital hypothyroidism Inferred relationship Some
Thyroid hormone responsiveness defect Is a True Congenital hypothyroidism Inferred relationship Some
Iodide transport defect Is a True Congenital hypothyroidism Inferred relationship Some
Hypothyroidism due to defect in thyroid hormone synthesis Is a True Congenital hypothyroidism Inferred relationship Some
Myxedematous form of cretinism Is a True Congenital hypothyroidism Inferred relationship Some
Iodotyrosyl coupling defect Is a False Congenital hypothyroidism Inferred relationship Some
Athyrotic hypothyroidism sequence Is a True Congenital hypothyroidism Inferred relationship Some
Thyroglobulin synthesis defect Is a False Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism without goitre Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody Is a True Congenital hypothyroidism Inferred relationship Some
Idiopathic congenital hypothyroidism Is a True Congenital hypothyroidism Inferred relationship Some
Familial thyroid dyshormonogenesis Is a True Congenital hypothyroidism Inferred relationship Some
Hypothyroidism due to mutation in transcription factor of pituitary development Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to absence of thyroid gland Is a True Congenital hypothyroidism Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome Is a True Congenital hypothyroidism Inferred relationship Some
Bamforth Lazarus syndrome Is a True Congenital hypothyroidism Inferred relationship Some
Congenital central hypothyroidism Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to iodine deficiency Is a True Congenital hypothyroidism Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Congenital hypothyroidism Inferred relationship Some
Genetic transient congenital hypothyroidism Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism with diffuse goitre Is a True Congenital hypothyroidism Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start