190268003: Congenital hypothyroidism (disorder)

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

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

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

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

Descriptions:

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	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	False	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
Myxoedematous 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 characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.	Is a	True	Congenital hypothyroidism	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present.	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
Congenital hypothyroidism suspected (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
920761000195119	ipotiroidismo congenito	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3481000172118	hypothyroïdie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
76171000077115	hypothyroïdisme congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
425421000274112	Angeborene Hypothyreose	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module