Code System Concept

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Code System Concept

Code System Concept Code	724228005
Code System Concept Name	Infantile choroidocerebral calcification syndrome (disorder)
Code System Preferred Concept Name	Infantile choroidocerebral calcification syndrome (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Superseded By Concept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	This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3432897013	Infantile choroidocerebral calcification syndrome	Active	Synonym	false	false
3432898015	Choroid plexus calcification and mental retardation	Active	Synonym	false	false

Associated Value Sets

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

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Calcinosis (disorder) {6595006 , SNOMED-CT } Degenerative brain disorder (disorder) {52522001 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of brain (disorder) {81308009 , SNOMED-CT } Extraskeletal calcification (disorder) {237896000 , SNOMED-CT } Hereditary degenerative disease of central nervous system (disorder) {106018006 , SNOMED-CT } Hereditary disorder of nervous system (disorder) {363235000 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Lesion of brain (disorder) {301766008 , 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,