1179400001: congenitale hypothyreoïdie door mutatie van 'dual oxidase maturation factor 2' (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 dual oxidase maturation factor 2 (disorder)
\Finding of neck region\Disorder of neck (disorder)\Disorder of thyroid gland\Hypothyroidism\Congenital hypothyroidism\Congenital hypothyroidism due to dual oxidase maturation factor 2 (disorder)

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

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

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

13308411000146115 congenitale hypothyreoïdie door mutatie van 'dual oxidase maturation factor 2' nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308421000146113 congenitale hypothyroïdie door defect van DUOXA2 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308431000146110 congenitale hypothyreoïdie door mutatie van 'dual oxidase maturation factor 2' (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

13308441000146119 congenitale hypothyroïdie door DUOXA2-mutatie nl Synonym (core metadata concept) Active Only initial character 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 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

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Active

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Characteristic

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This concept is not in any reference sets