725036000: Familial isolated hypoparathyroidism (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Familial isolated hypoparathyroidism
• \Functional finding\Decline in functional status\Decreased hormone secretion\Hypoparathyroidism\Familial isolated hypoparathyroidism
• \Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Familial isolated hypoparathyroidism
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial isolated hypoparathyroidism
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Familial isolated hypoparathyroidism
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Familial isolated hypoparathyroidism
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland\Hypoparathyroidism\Familial isolated hypoparathyroidism
• \Disease\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Familial isolated hypoparathyroidism

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3482362015	Familial isolated hypoparathyroidism (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3482363013	Familial isolated hypoparathyroidism	en	Synonym	Active	Case insensitive	SNOMED CT core
3482364019	A rare heterogeneous group of metabolic disorders with abnormal calcium metabolism due to deficient secretion of parathormone (PTH) without other endocrine disorders or developmental defects. It can occur at any age (from the newborn period to adulthood) but generally starts within the first decade of life. The disease may be due to an activating mutation of the calcium-sensing receptor (CASR) gene. This is the most common genetic cause and is transmitted as an autosomal dominant trait. It represents 42% of isolated hypoparathyroidism cases. Thirteen mutations have been described in familial or sporadic cases. In three families, mutations in the PTH gene have been identified. One family has been reported with a mutation in the gene encoding the glial cells missing homolog b (GCMB) transcription factor.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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