17885001: Iodotyrosine deiodination defect (disorder)

SNOMED CT Concept\constatation clinique\...

\Viscus structure finding (finding)\goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect

\constatation à propos d'une région de la tête et du cou\Finding of neck region\...

\Finding of thyroid gland\affection de la glande thyroïde (trouble)\...

\hypothyroïdie\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect

\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

\goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect

\affection du cou\affection de la glande thyroïde (trouble)\...

\hypothyroïdie\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect

\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

\goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Genetic disease\maladie héréditaire\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Iodotyrosine deiodination defect
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\affection d'un système corporel\pathologie endocrinologique\Hereditary disorder of endocrine system (disorder)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\affection du cou\affection de la glande thyroïde (trouble)\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\affection du cou\affection de la glande thyroïde (trouble)\goitre\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\trouble métabolique\Inborn error of metabolism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\trouble métabolique\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect
\Disease\trouble métabolique\Enzymopathy\Iodotyrosine deiodination defect
\Disease\Congenital disease\Congenital hypothyroidism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Congenital disease\Inborn error of metabolism\Dyshormonogenic goitre\Iodotyrosine deiodination defect
\Disease\Congenital disease\Inborn error of metabolism\Inherited disorder of thyroid metabolism\Iodotyrosine deiodination defect

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Iodotyrosine deiodination defect	interprète (attribut)	Thyroid hormone measurement (procedure)	false	Inferred relationship	Some	3
Iodotyrosine deiodination defect	a pour interprétation (attribut)	au-dessus de l'étendue de référence	false	Inferred relationship	Some	3
Iodotyrosine deiodination defect	localisation d'une constatation (attribut)	Entire thyroid gland	true	Inferred relationship	Some	1
Iodotyrosine deiodination defect	morphologie associée (attribut)	Enlargement (morphologic abnormality)	true	Inferred relationship	Some	1
Iodotyrosine deiodination defect	est un(e) (attribut)	Inherited disorder of thyroid metabolism	true	Inferred relationship	Some
Iodotyrosine deiodination defect	est un(e) (attribut)	hypothyroïdie	false	Inferred relationship	Some
Iodotyrosine deiodination defect	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Iodotyrosine deiodination defect	est un(e) (attribut)	Enzymopathy	true	Inferred relationship	Some
Iodotyrosine deiodination defect	est un(e) (attribut)	Reproductive system hereditary disorder	false	Inferred relationship	Some
Iodotyrosine deiodination defect	est un(e) (attribut)	Dyshormonogenic goitre	true	Inferred relationship	Some
Iodotyrosine deiodination defect	est un(e) (attribut)	Hereditary disorder of endocrine system (disorder)	false	Inferred relationship	Some
Iodotyrosine deiodination defect	survenue (attribut)	congénital	false	Inferred relationship	Some
Iodotyrosine deiodination defect	morphologie associée (attribut)	Hyperplasia (morphologic abnormality)	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	morphologie associée (attribut)	Hyperplasia (morphologic abnormality)	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	localisation d'une constatation (attribut)	structure de la thyroïde	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	morphologie associée (attribut)	Enlargement (morphologic abnormality)	false	Inferred relationship	Some	2
Iodotyrosine deiodination defect	localisation d'une constatation (attribut)	Entire thyroid gland	false	Inferred relationship	Some	2
Iodotyrosine deiodination defect	est un(e) (attribut)	Congenital hypothyroidism	false	Inferred relationship	Some
Iodotyrosine deiodination defect	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Iodotyrosine deiodination defect	localisation d'une constatation (attribut)	structure de la thyroïde	false	Inferred relationship	Some	1
Iodotyrosine deiodination defect	localisation d'une constatation (attribut)	Entire endocrine gonad (body structure)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
30214011	Iodotyrosine deiodination defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30215012	Hypothyroidism due to iodotyrosine deiodinase defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30216013	Genetic defect in thyroid hormonogenesis IV	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
30217016	Deiodinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30219018	Iodotyrosine deiodinase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
30220012	Iodotyrosine dehalogenase deficiency	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
312691000077117	anomalie de la désiodisation des iodotyrosines	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
478440011	Hypothyroidism due to deiodase defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
596101000077118	anomalie de la désiodisation des iodotyrosines (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
745239012	Iodotyrosine deiodination defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core