FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

190268003: Congenital hypothyroidism (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

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

55 descendants. Search Descendants:

Expanded Value Set

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

This concept is not in any reference sets

Back to Start