FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.24 | FHIR Version n/a User: [n/a]

1179400001: Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)

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

\Finding of head and neck region\Finding of neck region\...

\Finding of thyroid gland\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)

\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)
\Disease\Congenital disease (disorder)\Congenital hypothyroidism\Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)	Is a	Congenital hypothyroidism	true	Inferred relationship	Some
Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)	Finding site	Thyroid structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4651013016	Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4651014010	Congenital hypothyroidism due to dual oxidase maturation factor 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10730961000172112	hypothyroïdie congénitale due à ThOX2 (thyroid oxidase 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10730971000172115	hypothyroïdie congénitale due à DUOX (dual oxydase 2)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
10730981000172117	hypothyroïdie congénitale due au facteur de maturation de la dual oxydase 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7344191000172115	congenitale hypothyreoïdie door mutatie van 'dual oxidase maturation factor 2'	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7344201000172117	congenitale hypothyroïdie door defect van DUOXA2	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7344211000172119	congenitale hypothyroïdie door DUOXA2-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)