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

1179394003: Congenital hypothyroidism due to thyroid peroxidase mutation (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 thyroid peroxidase mutation (disorder)

\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)

\Disease\Disorder of body system\Disorder of endocrine system\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)
\Disease\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)
\Disease\Congenital disease (disorder)\Congenital hypothyroidism\Congenital hypothyroidism due to thyroid peroxidase mutation (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 thyroid peroxidase mutation (disorder)	Is a	Congenital hypothyroidism	true	Inferred relationship	Some
Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)	Finding site	Thyroid structure	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4651001014	Congenital hypothyroidism due to thyroid peroxidase mutation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4651002019	Congenital hypothyroidism due to thyroid peroxidase mutation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
10646691000172119	hypothyroïdie congénitale due à une mutation de la thyroperoxydase	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10646701000172119	hypothyroïdie congénitale due à une mutation de la peroxydase thyroïdienne	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
10646711000172116	hypothyroïdie congénitale due à une mutation de la TPO (thyroperoxydase)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7514021000172113	congenitale hypothyreoïdie door mutatie van schildklierperoxidase-gen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7514031000172111	congenitale hypothyreoïdie door mutatie van thyroperoxidase-gen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7514041000172116	congenitale hypothyroïdie door TPO-mutatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)