Code System Concept

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Code System Concept

Code System Concept Code	33982008
Code System Concept Name	Hyperphosphatasemia with intellectual disability (disorder)
Code System Preferred Concept Name	Hyperphosphatasemia with intellectual disability (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Superseded By Concept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
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
2995449017	Hyperphosphatasia with seizures and neurologic deficit	Active	Synonym	false	false
2995744011	Mabry syndrome	Active	Synonym	false	false
3643091012	Hyperphosphatasaemia with intellectual disability	Active	Synonym	false	false
3643098018	Hyperphosphatasemia with intellectual disability	Active	Synonym	false	false
485701012	Hyperphosphatasaemia with mental retardation	Active	Synonym	false	false
56735014	Hyperphosphatasemia with mental retardation	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
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)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of phosphate, calcium and vitamin D metabolism (disorder) {237879001 , SNOMED-CT } Disorder of phosphorus metabolism (disorder) {87049008 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Mental retardation (disorder) {91138005 , 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,