717897007: hereditaire geïsoleerde hypoparathyreoïdie door agenesie van bijschildklier (aandoening)

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

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Due to	Congenital absence of parathyroid gland	true	Inferred relationship	Some	3
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Is a	Hypoparathyroidism	true	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Finding site	Parathyroid structure	false	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Has definitional manifestation	Decreased hormone secretion	false	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Is a	Familial isolated hypoparathyroidism (disorder)	false	Inferred relationship	Some
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Interprets	Evaluation procedure (procedure)	false	Inferred relationship	Some	4
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	1
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Finding site	Parathyroid structure	true	Inferred relationship	Some	2
Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	Interprets	Endocrine observable	false	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3310540016	Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310541017	Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6491411000146110	hereditaire geïsoleerde hypoparathyreoïdie door agenesie van bijschildklier	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6491421000146117	erfelijke geïsoleerde hypoparathyroïdie door agenese van parathyroïd	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6491431000146115	erfelijke geïsoleerde hypoparathyroïdie door agenese van glandula parathyroidea	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6491441000146111	hereditaire geïsoleerde hypoparathyreoïdie door agenesie van bijschildklier (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)