190268003: Congenital hypothyroidism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of neck region\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism (disorder)\Congenital hypothyroidism
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism (disorder)\Congenital hypothyroidism

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hypothyroidism
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism (disorder)\Congenital hypothyroidism
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism (disorder)\Congenital hypothyroidism

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

2023381000005117 Kongenit hypotyroidisme da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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 (disorder)	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	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
Anden specificeret kongenit hypotyroidisme	Is a	False	Congenital hypothyroidism	Inferred relationship	Some
Kongenit hypotyroidisme, ikke nærmere specificeret	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	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 (TSH)-binding inhibitory antibodies is a type of transient congenital hypothyroidism, a thyroid hormone deficiency that is not permanent.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
Idiopathic congenital hypothyroidism (disorder)	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.	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 is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
A very rare syndrome of congenital hypothyroidism characterized by thyroid dysgenesis (in most cases athyreosis), cleft palate and spiky hair, with or without choanal atresia, and bifid epiglottis. Facial dysmorphism and porencephaly have been reported in isolated cases.	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-delayed bone age due to thyroid hormone metabolism deficiency is a rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
A rare congenital hypothyroidism disorder with characteristics of transient primary fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goitre, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalise without treatment within 3 weeks of birth.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	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 goitre	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
A rare primary congenital hypothyroidism characterised by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some

This concept is not in any reference sets

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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
2023381000005117	Kongenit hypotyroidisme	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)