190268003: hypothyroïdisme congénital (trouble)

SNOMED CT Concept\constatation clinique\...

\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

\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism

\Disease\affection d'un système corporel\pathologie endocrinologique\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism
\Disease\affection du cou\affection de la glande thyroïde (trouble)\hypothyroïdie\Congenital hypothyroidism
\Disease\Congenital disease\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	localisation d'une constatation (attribut)	structure de la thyroïde	true	Inferred relationship	Some	1
Congenital hypothyroidism	est un(e) (attribut)	anomalie congénitale d'une glande endocrine	false	Inferred relationship	Some
Congenital hypothyroidism	est un(e) (attribut)	anomalie congénitale du cou	false	Inferred relationship	Some
Congenital hypothyroidism	est un(e) (attribut)	hypothyroïdie	true	Inferred relationship	Some
Congenital hypothyroidism	est un(e) (attribut)	Congenital disease	true	Inferred relationship	Some
Congenital hypothyroidism	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital hypothyroidism	localisation d'une constatation (attribut)	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Congenital hypothyroidism	localisation d'une constatation (attribut)	structure de la thyroïde	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital hypothyroidism due to maternal intake of antithyroid drug	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
hypothyroïdie causée par un défaut de capture de l'iode	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Transient congenital hypothyroidism due to dual oxidase 2 mutation (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Dyshormonogenic goitre	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Suspected congenital hypothyroidism (situation)	constatation associée (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some	1
Congenital hypothyroidism due to congenital anomaly of thyroid gland	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to peripheral resistance to thyroid hormone (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to thyroglobulin mutation (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to thyroid deiodinase mutation (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to symporter mutation (disorder)	est un(e) (attribut)	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	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Neonatal jaundice with congenital hypothyroidism	associé à (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some	1
Sporadic cretinism	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism screening test (procedure)	a pour objet (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some	1
Congenital hypothyroidism screening test (procedure)	a pour objet (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some	2
Other specified congenital hypothyroidism	est un(e) (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism NOS	est un(e) (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some
Iodotyrosine deiodination defect	est un(e) (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some
Endemic cretinism	est un(e) (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some
anomalie d'oxydation des iodures	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
défaut de la réponse hormonale thyroïdienne	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
défaut de transport des iodures	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
hypothyroïdie par défaut de synthèse des hormones thyroïdiennes	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Myxedematous form of cretinism	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
anomalie du couplage des iodotyrosines	est un(e) (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some
syndrome d'athyroïdie	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Thyroglobulin synthesis defect	est un(e) (attribut)	False	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism without goitre	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to transplacental passage of maternal thyroid stimulating hormone binding inhibitory antibody (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
hypothyroïdie congénitale idiopathique	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Familial thyroid dyshormonogenesis (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Hypothyroidism due to mutation in transcription factor of pituitary development (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to absence of thyroid gland (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
syndrome d'obésité, colite, hypothyroïdie, hypertrophie cardiaque, retard de développement	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Bamforth Lazarus syndrome (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital central hypothyroidism (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism due to iodine deficiency (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Genetic transient congenital hypothyroidism (disorder)	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some
Congenital hypothyroidism with diffuse goitre	est un(e) (attribut)	True	Congenital hypothyroidism	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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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
3393660013	Hypothyroïdisme congénital	fr	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3481000172118	hypothyroïdie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
573826012	Congenital hypothyroidism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
698631000077112	hypothyroïdisme congénital (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
76171000077115	hypothyroïdisme congénital	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)