75316000: Autoimmune hypoparathyroidism (disorder)

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

\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism

\Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\Autoimmune hypoparathyroidism

\Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Autoimmune hypoparathyroidism

\Disease\Disorder of immune function (disorder)\Autoimmune disease\Autoimmune endocrine disease\Autoimmune hypoparathyroidism
\Disease\Disorder of body system\Disorder of endocrine system\Autoimmune endocrine disease\Autoimmune hypoparathyroidism
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\Autoimmune hypoparathyroidism

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

125091015 Autoimmune hypoparathyroidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

815912019 Autoimmune hypoparathyroidism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3431471000005112 autoimmun hypoparatyroidisme da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autoimmune hypoparathyroidism	Is a	Autoimmune endocrine disease	true	Inferred relationship	Some
Autoimmune hypoparathyroidism	Is a	Hypoparathyroidism	true	Inferred relationship	Some
Autoimmune hypoparathyroidism	Interprets	Nutritional deficiency (finding)	false	Inferred relationship	Some
Autoimmune hypoparathyroidism	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Autoimmune hypoparathyroidism	Finding site	Parathyroid structure	true	Inferred relationship	Some	3
Autoimmune hypoparathyroidism	Finding site	Structure of immune system (body structure)	false	Inferred relationship	Some
Autoimmune hypoparathyroidism	Pathological process (attribute)	Autoimmune process	true	Inferred relationship	Some	2
Autoimmune hypoparathyroidism	Has definitional manifestation	Decreased hormone secretion	false	Inferred relationship	Some
Autoimmune hypoparathyroidism	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Autoimmune hypoparathyroidism	Has interpretation	Decreased	true	Inferred relationship	Some	1
Autoimmune hypoparathyroidism	Interprets	Hormone secretion	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure. The first manifestation of the disease (usually candidiasis) occurs in childhood with other manifestations appearing progressively. The most common autoimmune endocrine involvement is hypoparathyroidism (79-96% of cases). Adrenal failure most often manifests with concurrent mineralocorticoid and glucocorticoid deficiency (78% of cases). The disease is caused by mutations of the AIRE gene (21q22.3) coding for the AIRE transcription factor, which is involved in immune tolerance mechanisms and contributes to the negative selection of autoreactive T lymphocytes in the thymus, lymph nodes and spleen. Transmission is autosomal recessive.	Is a	True	Autoimmune hypoparathyroidism	Inferred relationship	Some

This concept is not in any reference sets