Code System Concept

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Code System Concept

Code System Concept Code	720500008
Code System Concept Name	Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder)
Code System Preferred Concept Name	Aplasia cutis congenita with intestinal lymphangiectasia 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Superseded By Concept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	An extremely rare association syndrome, described in only two brothers to date (one of which died at 2 months of age), characterised by aplasia cutis congenita of the vertex and generalised oedema (as well as hypoproteinaemia and lymphopenia) due to intestinal lymphangiectasia. There have been no further descriptions in the literature since 1985.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3321040019	Aplasia cutis congenita with intestinal lymphangiectasia syndrome	Active	Synonym	false	false
3321041015	Bronspiegel Zelnick 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)

Aplasia cutis congenita (disorder) {35484002 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital anomaly of abdomen (disorder) {363024001 , SNOMED-CT } Congenital anomaly of lower trunk (disorder) {363030001 , SNOMED-CT } Congenital anomaly of lymphatic structure of trunk (disorder) {363031002 , SNOMED-CT } Congenital lymphangiectasia (disorder) {788292004 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of lymphatic system (disorder) {363190001 , SNOMED-CT } Hereditary disorder of the integument (disorder) {363185004 , SNOMED-CT } Intestinal lymphangiectasis (disorder) {197260007 , SNOMED-CT } Lymphatic malformation (disorder) {234095009 , 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,