237659007: Pseudopseudohypoparathyroidism (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudopseudohypoparathyroidism
• \Functional finding\Decline in functional status (finding)\Decreased hormone secretion\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudopseudohypoparathyroidism
• \Endocrine finding\Decreased hormone secretion\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudopseudohypoparathyroidism
• \Disease\Disorder of body system\Disorder of endocrine system\Pseudohypoparathyroidism and pseudopseudohypoparathyroidism\Pseudopseudohypoparathyroidism
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudopseudohypoparathyroidism
• \Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hypoparathyroidism\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudopseudohypoparathyroidism
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism (disorder)\Disorder of calcium metabolism\Hypocalcemia\Pseudohypoparathyroidism and pseudopseudohypoparathyroidism\Pseudopseudohypoparathyroidism
• \Disease\Metabolic disease\Disorder of mineral metabolism\Disorder of phosphate, calcium and vitamin D metabolism (disorder)\Disorder of calcium metabolism\Hypocalcemia\A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcaemia, hyperphosphataemia and elevated PTH levels and that includes the subtypes PHP type 1a (PHP-1a) , PHP type 1b (PHP-1b), PHP type 1c (PHP-1c), PHP type 2 (PHP-2) and pseudopseudohypoparathyroidism (PPHP). PHP-1a, PPHP, and PHP-1b are all due to molecular defects in the same locus of the GNAS (20q13.2-q13.3) gene coding the alpha sub-unit of the stimulatory G protein. PHP can be sporadic or inherited autosomal dominantly with parental imprinting.\Pseudopseudohypoparathyroidism

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
356191010	Pseudopseudohypoparathyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
626419011	Pseudopseudohypoparathyroidism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3917401000005119	pseudopseudohypoparathyroidisme	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)

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