Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
98005010 | Pseudohypoparathyroidism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
98008012 | Constitutional chronic hypocalcemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
98009016 | Familial pseudohypoparathyroidism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
98010014 | Parathyroid hormone resistant hypoparathyroidism | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
498307013 | Constitutional chronic hypocalcaemia | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
797767018 | Pseudohypoparathyroidism (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | IPS terminology module (core metadata concept) |
3786612010 | 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
3786613017 | A heterogeneous group of endocrine disorders with characteristics of normal renal function and resistance to the action of parathyroid hormone (PTH), manifesting with hypocalcemia, hyperphosphatemia 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. | en | Definition | Active | Entire term case sensitive (core metadata concept) | IPS terminology module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pseudohypoparathyroidism | Is a | Hypoparathyroidism | true | Inferred relationship | Some | ||
Pseudohypoparathyroidism | Is a | Hypocalcemia | true | Inferred relationship | Some | ||
Pseudohypoparathyroidism | Has interpretation | Decreased (qualifier value) | true | Inferred relationship | Some | 1 | |
Pseudohypoparathyroidism | Interprets | Hormone secretion | true | Inferred relationship | Some | 1 | |
Pseudohypoparathyroidism | Finding site | Parathyroid structure | true | Inferred relationship | Some | 2 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets