Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
498307013 | Constitutional chronic hypocalcaemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
797767018 | Pseudohypoparathyroidism (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
98005010 | Pseudohypoparathyroidism | en | Synonym | Active | Case insensitive | SNOMED CT core |
98008012 | Constitutional chronic hypocalcemia | en | Synonym | Active | Case insensitive | SNOMED CT core |
98009016 | Familial pseudohypoparathyroidism | en | Synonym | Active | Case insensitive | SNOMED CT core |
98010014 | Parathyroid hormone resistant hypoparathyroidism | en | Synonym | Active | Case insensitive | SNOMED CT core |
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 | Case sensitive | SNOMED CT core |
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 | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Pseudohypoparathyroidism | Interprets | Hormone secretion | true | Inferred relationship | Some | 1 | |
Pseudohypoparathyroidism | Finding site | Parathyroid structure | true | Inferred relationship | Some | 2 | |
Pseudohypoparathyroidism | Has interpretation | Decreased | true | Inferred relationship | Some | 1 | |
Pseudohypoparathyroidism | Is a | Hypoparathyroidism | true | Inferred relationship | Some | ||
Pseudohypoparathyroidism | Is a | Hypocalcaemia | true | Inferred relationship | Some | ||
Pseudohypoparathyroidism | Finding site | Body system structure | false | Inferred relationship | Some |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Pseudohypoparathyroidism type II | Is a | True | Pseudohypoparathyroidism | Inferred relationship | Some | |
Pseudohypoparathyroidism type I B | Is a | True | Pseudohypoparathyroidism | Inferred relationship | Some | |
Pseudohypoparathyroidism type I A | Is a | True | Pseudohypoparathyroidism | Inferred relationship | Some | |
Pseudopseudohypoparathyroidism | Is a | True | Pseudohypoparathyroidism | Inferred relationship | Some | |
Pseudohypoparathyroidism type 1C | Is a | True | Pseudohypoparathyroidism | Inferred relationship | Some | |
Cataract due to pseudohypoparathyroidism | Due to | True | Pseudohypoparathyroidism | Inferred relationship | Some | 2 |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set