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58976002: Pseudohypoparathyroidism (disorder)


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


5 descendants. Search Descendants:

Expanded Value Set


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

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