Code System Concept

Code System Concept

Code System Concept Code	58976002
Code System Concept Name	Pseudohypoparathyroidism (disorder)
Code System Preferred Concept Name	Pseudohypoparathyroidism (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Details

Code System Code	PH_SNOMED-CT
Code System OID	2.16.840.1.113883.6.96
HL7 Table 0396 Code	SCT
Superseded By Concept
SDO Concept Status	Active
SDO Concept Status Date	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description	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.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
498307013	Constitutional chronic hypocalcaemia	Active	Synonym	false	false
98005010	Pseudohypoparathyroidism	Active	Synonym	false	false
98008012	Constitutional chronic hypocalcemia	Active	Synonym	false	false
98009016	Familial pseudohypoparathyroidism	Active	Synonym	false	false
98010014	Parathyroid hormone resistant hypoparathyroidism	Active	Synonym	false	false
98011013	Albright hereditary osteodystrophy	Active	Synonym	false	false

Associated Value Sets

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Hypocalcemia (disorder) {5291005 , SNOMED-CT } Hypoparathyroidism (disorder) {36976004 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Pseudohypoparathyroidism (disorder) {58976002 , SNOMED-CT }

Parent/Child (Relationship Type)