711152006: Autosomal dominant hypocalcemia (disorder)

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

\Finding of neck region\Disease of neck\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant hypocalcemia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of endocrine system (disorder)\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Hereditary disorder of endocrine system (disorder)\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)
\Disease\Disorder of body system\Disorder of endocrine system (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)
\Disease\Disease of neck\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.\Autosomal dominant hypocalcemia (disorder)
\Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism (disorder)\Hypocalcemia\Autosomal dominant hypocalcemia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal dominant hypocalcemia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hypocalcemia (disorder)	Is a	Hypocalcemia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hypocalcemia (disorder)	Is a	A rare heterogeneous group of metabolic disorders characterized by abnormal calcium metabolism causing hypocalcemia due to insufficient serum levels of bioactive parathormone (PTH), without other endocrine disorders or developmental defects.	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant hypocalcemia (disorder)	Finding site	Parathyroid structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant hypocalcemia (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant hypocalcemia (disorder)	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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
3047510011	Autosomal dominant hypocalcemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047511010	Autosomal dominant hypocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047512015	Autosomal dominant hypocalcaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047513013	Familial hypocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047514019	Familial hypocalcaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047515018	Autosomal dominant hypoparathyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047516017	Familial hypercalciuric hypocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047517014	Familial hypercalciuric hypocalcaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047510011	Autosomal dominant hypocalcemia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047510011	Autosomal dominant hypocalcemia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047511010	Autosomal dominant hypocalcemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047511010	Autosomal dominant hypocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047512015	Autosomal dominant hypocalcaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047512015	Autosomal dominant hypocalcaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047513013	Familial hypocalcemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047513013	Familial hypocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047514019	Familial hypocalcaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047514019	Familial hypocalcaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047515018	Autosomal dominant hypoparathyroidism	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047515018	Autosomal dominant hypoparathyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047516017	Familial hypercalciuric hypocalcemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047516017	Familial hypercalciuric hypocalcemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3047517014	Familial hypercalciuric hypocalcaemia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3047517014	Familial hypercalciuric hypocalcaemia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
986011000172119	hypocalcémie autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
986011000172119	hypocalcémie autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module