1217517004: autosomaal recessieve familiaire geïsoleerde hypoparathyreoïdie (aandoening)

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

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive familial isolated hypoparathyroidism (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Familial isolated hypoparathyroidism (disorder)\Autosomal recessive familial isolated hypoparathyroidism (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Apr 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5036557019 Autosomal recessive familial isolated hypoparathyroidism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5036558012 Autosomal recessive familial isolated hypoparathyroidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13603841000146119 autosomaal recessieve familiale geïsoleerde hypoparathyroïdie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603851000146116 autosomaal recessieve familiaire geïsoleerde hypoparathyreoïdie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13603861000146118 autosomaal recessieve familiaire geïsoleerde hypoparathyreoïdie nl Synonym (core metadata concept) 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
Autosomal recessive familial isolated hypoparathyroidism (disorder)	Is a	Familial isolated hypoparathyroidism (disorder)	true	Inferred relationship	Some
Autosomal recessive familial isolated hypoparathyroidism (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive familial isolated hypoparathyroidism (disorder)	Finding site	Parathyroid structure	true	Inferred relationship	Some	2
Autosomal recessive familial isolated hypoparathyroidism (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Autosomal recessive familial isolated hypoparathyroidism (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	1

Inbound Relationships

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Characteristic

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This concept is not in any reference sets