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190268003: congenitale hypothyreoïdie (aandoening)

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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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 (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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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
31371000146111	congenitale hypothyreoïdie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2242621000146115	congenitale hypothyroïdie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12583471000146114	congenitale hypothyreoïdie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8690251000146112	CHT; aangeboren afwijking met een verminderde schildklierwerking of het ontbreken van de schildklier.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)