56090007: Pseudohypoparathyroidism type I B (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of head and neck region\Finding of neck region\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B
• \Functional finding\Decline in functional status\Decreased hormone secretion\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B
• \Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B
• \Disease\Disorder of neck\Disorder of parathyroid gland\Hypoparathyroidism\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism\Disorder of calcium metabolism\Hypocalcaemia\Pseudohypoparathyroidism\Pseudohypoparathyroidism type I B

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
794563010	Pseudohypoparathyroidism type I B (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
93283014	Pseudohypoparathyroidism type I B	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3786608016	A type of pseudohypoparathyroidism with characteristics of localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	en	Definition	Active	Case sensitive	SNOMED CT core
3786609012	A type of pseudohypoparathyroidism with characteristics of localised resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Severity of symptoms can vary greatly between patients and even among kindreds. The majority of cases are sporadic, but an autosomal dominant transmission has also been described. About 70% of patients display methylation defects, sporadic or genetic-based, at GNAS (20q13.2-q13.3) differentially methylated regions (DMRs).	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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