1179394003: congenitale hypothyreoïdie door mutatie van schildklierperoxidase-gen (aandoening)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\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)

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

Descriptions:

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

13308511000146116 congenitale hypothyreoïdie door mutatie van schildklierperoxidase-gen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308521000146114 congenitale hypothyroïdie door TPO-mutatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308531000146111 congenitale hypothyreoïdie door mutatie van thyroperoxidase-gen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308541000146115 congenitale hypothyreoïdie door mutatie van schildklierperoxidase-gen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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