717898002: Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)

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

\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Hypoparathyroidism due to impaired PTH secretion\Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Hypoparathyroidism due to impaired PTH secretion\Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Hypoparathyroidism due to impaired PTH secretion\Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)

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

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

Descriptions:

Id Description Lang Type Status Case? Module

3310543019 Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3310544013 Hereditary isolated hypoparathyroidism due to impaired parathormone secretion en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

12700301000172110 hypoparathyroïdie héréditaire isolée due à une altération de la sécrétion de l'hormone parathyroïde fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12700311000172113 hypoparathyroïdie héréditaire isolée due à une altération de la sécrétion de parathormone fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

12700321000172115 hypoparathyroïdie héréditaire isolée due à une altération de la sécrétion de PTH (parathyroid hormone) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4364551000172116 hereditaire geïsoleerde hypoparathyroïdie door gestoorde PTH-secretie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4364561000172119 erfelijke geïsoleerde hypoparathyroïdie door gestoorde afscheiding van bijschildklierhormoon nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4364571000172111 hereditaire geïsoleerde hypoparathyroïdie door gestoorde secretie van parathormoon nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

4364581000172114 hereditaire geïsoleerde hypoparathyreoïdie door gestoorde secretie van parathyroïdhormoon nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3310543019	Hereditary isolated hypoparathyroidism due to impaired parathormone secretion (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3310544013	Hereditary isolated hypoparathyroidism due to impaired parathormone secretion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
12700301000172110	hypoparathyroïdie héréditaire isolée due à une altération de la sécrétion de l'hormone parathyroïde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12700311000172113	hypoparathyroïdie héréditaire isolée due à une altération de la sécrétion de parathormone	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
12700321000172115	hypoparathyroïdie héréditaire isolée due à une altération de la sécrétion de PTH (parathyroid hormone)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4364551000172116	hereditaire geïsoleerde hypoparathyroïdie door gestoorde PTH-secretie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4364561000172119	erfelijke geïsoleerde hypoparathyroïdie door gestoorde afscheiding van bijschildklierhormoon	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4364571000172111	hereditaire geïsoleerde hypoparathyroïdie door gestoorde secretie van parathormoon	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4364581000172114	hereditaire geïsoleerde hypoparathyreoïdie door gestoorde secretie van parathyroïdhormoon	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)