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

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

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 (disorder)	Is a	Congenital anomaly of endocrine gland	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism (disorder)	Is a	Congenital anomaly of neck	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism (disorder)	Is a	Hypothyroidism	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypothyroidism (disorder)	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism (disorder)	Finding site	Thyroid structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital hypothyroidism (disorder)	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism (disorder)	Finding site	Thyroid structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital hypothyroidism without goitre	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism with diffuse goiter (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Sporadic cretinism	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Other specified congenital hypothyroidism	Is a	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism NOS	Is a	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal jaundice with congenital hypothyroidism (disorder)	Associated with	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypothyroidism screening test (procedure)	Has focus	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypothyroidism screening test (procedure)	Has focus	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Iodotyrosine deiodination defect	Is a	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Endemic cretinism	Is a	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Iodide oxidation defect (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroid hormone responsiveness defect	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Iodide transport defect	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypothyroidism due to defect in thyroid hormone synthesis (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Myxedematous form of cretinism (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Iodotyrosyl coupling defect	Is a	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Athyrotic hypothyroidism sequence	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Thyroglobulin synthesis defect (disorder)	Is a	False	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Idiopathic congenital hypothyroidism is a type of primary congenital hypothyroidism whose cause and prevalence are unknown.	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to absence of thyroid gland (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised 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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Bamforth Lazarus syndrome	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital central hypothyroidism (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to iodine deficiency (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to maternal intake of antithyroid drug (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
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 (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Hypothyroidism due to iodide trapping defect	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Transient congenital hypothyroidism due to dual oxidase 2 mutation (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Dyshormonogenic goiter	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Suspected congenital hypothyroidism (situation)	Associated finding	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital hypothyroidism due to congenital anomaly of thyroid gland	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to peripheral resistance to thyroid hormone	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to thyroglobulin mutation (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to thyroid deiodinase mutation (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital hypothyroidism due to symporter mutation	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal jaundice with congenital hypothyroidism (disorder)	Due to	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neonatal jaundice with congenital hypothyroidism (disorder)	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Resistance to thyroid hormone due to mutation in thyroid hormone receptor alpha	Is a	True	Congenital hypothyroidism (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)

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
292373016	Congenital hypothyroidism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
425421000274112	Angeborene Hypothyreose	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (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
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
920761000195119	ipotiroidismo congenito	it	Synonym (core metadata concept)	Active	Entire term case sensitive (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
3390381001000111	Hypothyreose, kongenitale	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module