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190268003: Congenital hypothyroidism (disorder)

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

Descriptions:

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

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 Some
Congenital hypothyroidism Is a Congenital anomaly of neck false Inferred relationship Some
Congenital hypothyroidism Is a Hypothyroidism true Inferred relationship Some
Congenital hypothyroidism Occurrence Congenital true Inferred relationship Some 1
Congenital hypothyroidism Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Congenital hypothyroidism Finding site Thyroid structure false Inferred relationship Some 2
Congenital hypothyroidism Is a Congenital disease (disorder) true Inferred relationship Some
Congenital hypothyroidism Finding site Thyroid structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital hypothyroidism without goitre Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism with diffuse goitre Is a True Congenital hypothyroidism Inferred relationship Some
Sporadic cretinism Is a True Congenital hypothyroidism Inferred relationship Some
Other specified congenital hypothyroidism Is a False Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism NOS Is a False Congenital hypothyroidism Inferred relationship Some
Neonatal jaundice with congenital hypothyroidism Associated with False Congenital hypothyroidism Inferred relationship Some 1
Congenital hypothyroidism screening test (procedure) Has focus False Congenital hypothyroidism Inferred relationship Some 1
Congenital hypothyroidism screening test (procedure) Has focus True Congenital hypothyroidism Inferred relationship Some 2
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 (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Thyroglobulin synthesis defect Is a False Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Idiopathic congenital hypothyroidism (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Familial thyroid dyshormonogenesis (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to absence of thyroid gland (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Bamforth Lazarus syndrome (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital central hypothyroidism (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to iodine deficiency (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Genetic transient congenital hypothyroidism (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to maternal intake of antithyroid drug Is a True Congenital hypothyroidism Inferred relationship Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant 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 (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Dyshormonogenic goiter Is a True Congenital hypothyroidism Inferred relationship Some
Suspected congenital hypothyroidism (situation) 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 (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to peripheral resistance to thyroid hormone (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to thyroglobulin mutation (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to thyroid peroxidase mutation (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to thyroid deiodinase mutation (disorder) Is a True Congenital hypothyroidism Inferred relationship Some
Congenital hypothyroidism due to symporter mutation (disorder) 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

This concept is not in any reference sets

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