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 |
| 443101000241113 | pseudohypoparathyroïdie type 1B (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 794563010 | Pseudohypoparathyroidism type I B (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 93283014 | Pseudohypoparathyroidism type I B | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 991331000172116 | pseudohypoparathyroïdie type 1B | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 | Entire term case sensitive (core metadata concept) | 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 | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR