Code System Concept

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Code System Concept

Code System Concept Code	763531001
Code System Concept Name	Familial benign copper deficiency (disorder)
Code System Preferred Concept Name	Familial benign copper deficiency (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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare disorder of mineral absorption and transport characterized by hypocupremia that manifests as failure to thrive, mild anemia, repeated seizures, hypotonia and seborrheic skin. Spurring of the femur and tibia are also noted on radiographic imaging. Symptoms are reversible or improve with supplements of oral copper. There have been no further descriptions in the literature since 1982.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3642758018	Familial benign copper deficiency	Active	Synonym	false	false
3642759014	Familial benign hypocupremia	Active	Synonym	false	false
3642761017	Familial benign hypocupraemia	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts Parent Concepts Parent/Child (Relationship Type) Disorder of copper metabolism (disorder) {79886009 , SNOMED-CT } Familial disease (disorder) {111941005 , SNOMED-CT } Hereditary disease (disorder) {32895009 , SNOMED-CT } Hereditary metabolic disease (disorder) {1821000146108 , SNOMED-CT } Hypocupremia (disorder) {19577007 , 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,