Code System Concept

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Code System Concept

Code System Concept Code	50855007
Code System Concept Name	Juvenile hemochromatosis (disorder)
Code System Preferred Concept Name	Juvenile hemochromatosis (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Superseded By Concept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	The early-onset and most severe form of hereditary haemochromatosis a group of diseases characterised by excessive tissue iron deposition of genetic origin. This juvenile form of haemochromatosis has the classical features of HH but is also characterised by severe cardiomyopathy and hypogonadism. Arthropathy, hepatic fibrosis, glucose intolerance, and increased skin pigmentation are frequent. Two types of the disease have been described, both being transmitted in an autosomal recessive way.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4643576013	Haemochromatosis type 2	Active	Synonym	false	false
4643577016	Hemochromatosis type 2	Active	Synonym	false	false
495799017	Juvenile haemochromatosis	Active	Synonym	false	false
84743011	Juvenile hemochromatosis	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 } Degenerative disorder (disorder) {362975008 , SNOMED-CT } Hemochromatosis (disorder) {399187006 , SNOMED-CT } Hemochromatosis (disorder) {86781004 , SNOMED-CT } Hereditary hemochromatosis (disorder) {35400008 , SNOMED-CT }	Other Relationships No other relationships present.
Child Concepts Juvenile hemochromatosis (disorder) {50855007 , SNOMED-CT } Parent/Child (Relationship Type) Type 2A juvenile hereditary hemochromatosis (disorder) {1186849007 , SNOMED-CT } Type 2B juvenile hereditary hemochromatosis (disorder) {1186844002 , SNOMED-CT }

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