Code System Concept

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Code System Concept

Code System Concept Code	721015008
Code System Concept Name	Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)
Code System Preferred Concept Name	Hydrocephalus with endocardial fibroelastosis and cataract 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Superseded By Concept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	01/31/2017
SDO Date Created	01/31/2017
SDO Date Revised	01/31/2017
Description	Syndrome that is characterized by communicating hydrocephalus, endocardial fibroelastosis and congenital cataracts. It has been described in two children, both of whom died a few months after birth (the first as a result of a respiratory infection and the second due to cardiac complications). The etiology of the syndrome is unknown but a viral or genetic origin has been proposed.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3323051013	Hydrocephalus with endocardial fibroelastosis and cataract syndrome	Active	Synonym	false	false
3323052018	HEC syndrome	Active	Synonym	false	false
3323056015	HEC (hydrocephalus, endocardial fibroelastosis, cataract ) syndrome	Active	Synonym	false	false
3780953013	HEC (hydrocephalus, endocardial fibroelastosis, cataract) syndrome	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)

Communicating hydrocephalus (disorder) {271569006 , SNOMED-CT } Congenital anomaly of brain (disorder) {57148006 , SNOMED-CT } Congenital cardiovascular disorder (disorder) {762228008 , SNOMED-CT } Congenital cataract (disorder) {79410001 , SNOMED-CT } Congenital endocardial fibroelastosis (disorder) {1141882007 , SNOMED-CT } Congenital heart disease (disorder) {13213009 , SNOMED-CT } Congenital hydrocephalus (disorder) {47032000 , SNOMED-CT } Endocardial fibroelastosis (disorder) {65457005 , 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,