Code System Concept

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Code System Concept

Code System Concept Code	56090007
Code System Concept Name	Pseudohypoparathyroidism type I B (disorder)
Code System Preferred Concept Name	Pseudohypoparathyroidism type I B (disorder)
Concept Status	Published
Concept Status Date	09/01/2024
Code System Name	SNOMED-CT

Concept Relationships
Concept Details

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Superseded By Concept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 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).
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
93283014	Pseudohypoparathyroidism type I B	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Pseudohypoparathyroidism (disorder) {58976002 , SNOMED-CT } Pseudohypoparathyroidism type I A (disorder) {58833000 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts No child concepts present.

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,