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58976002: Pseudohypoparathyroidism (disorder)


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
98005010 Pseudohypoparathyroidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
98008012 Constitutional chronic hypocalcemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
98009016 Familial pseudohypoparathyroidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
98010014 Parathyroid hormone resistant hypoparathyroidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
498307013 Constitutional chronic hypocalcaemia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
797767018 Pseudohypoparathyroidism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
493731000172119 pseudohypoparathyroïdie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Pseudohypoparathyroidism Is a Hypocalcemia true Inferred relationship Some
Pseudohypoparathyroidism Finding site Body system structure false Inferred relationship Some
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

Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudopseudohypoparathyroidism Is a True Pseudohypoparathyroidism Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Pseudohypoparathyroidism Inferred relationship Some
Pseudohypoparathyroidism type 1C (disorder) Is a True Pseudohypoparathyroidism Inferred relationship Some
Cataract due to pseudohypoparathyroidism (disorder) Due to True Pseudohypoparathyroidism Inferred relationship Some 2
Pseudohypoparathyroidism type II Is a True Pseudohypoparathyroidism Inferred relationship Some
Pseudohypoparathyroidism type I B Is a True Pseudohypoparathyroidism Inferred relationship Some

This concept is not in any reference sets

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