Code System Concept

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Code System Concept

Code System Concept Code	726081005
Code System Concept Name	Hereditary hypophosphatemic rickets with hypercalciuria (disorder)
Code System Preferred Concept Name	Hereditary hypophosphatemic rickets with hypercalciuria (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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	A hereditary renal phosphate-wasting disorder characterised by hypophosphataemia and hypercalciuria associated with rickets and/or osteomalacia. Other features include slow growth, short stature, skeletal deformities, muscle weakness and bone pain that are associated with normal or elevated plasma levels of calcitriol and hyperphosphaturia. Caused by homozygous or compound heterozygous mutations in the SLC34A3 gene encoding a sodium-dependent phosphate transporter (NaPi-IIc/NPT2c). Transmission is autosomal recessive.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3447993017	Hereditary hypophosphatemic rickets with hypercalciuria	Active	Synonym	false	false
3447994011	Hereditary hypophosphataemic rickets with hypercalciuria	Active	Synonym	false	false
3447995012	HHRH - hereditary hypophosphatemic rickets with hypercalciuria	Active	Synonym	false	false
3447996013	HHRH - hereditary hypophosphataemic rickets with hypercalciuria	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hypophosphatemic bone disease (disorder) {237891005 , SNOMED-CT } Autosomal recessive hypophosphatemic rickets (disorder) {726080006 , SNOMED-CT } Hereditary disorder of the urinary system (disorder) {363338001 , SNOMED-CT } Hypercalciuria (disorder) {71938000 , SNOMED-CT } Rickets (disorder) {41345002 , 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,