Code System Concept

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Code System Concept

Code System Concept Code	720856002
Code System Concept Name	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)
Code System Preferred Concept Name	Ectodermal dysplasia with ectrodactyly and macular dystrophy 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Superseded By Concept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 with the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. Appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3322307016	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome	Active	Synonym	false	false
3322308014	EEM (ectodermal dysplasia, ectrodactyly, macular dystrophy) syndrome	Active	Synonym	false	false
3322309018	EEM 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)

Adactyly (disorder) {275348004 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of macula (disorder) {4041005 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Ectodermal dysplasia (disorder) {8654005 , SNOMED-CT } Ectrodactyly (disorder) {81208006 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Hereditary macular dystrophy (disorder) {276436007 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , 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,