Code System Concept

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Code System Concept

Code System Concept Code	715989002
Code System Concept Name	Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)
Code System Preferred Concept Name	Congenital cataract with intellectual disability and anal atresia and urinary defect 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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	This syndrome has main feature of congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. It has been described in three siblings born to nonconsanguineous parents. It is likely to be transmitted as an autosomal recessive trait.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3304345014	Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome	Active	Synonym	false	false
3304346010	Karandikar Maria Kamble 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)

Anal atresia (disorder) {204712000 , SNOMED-CT } Congenital cataract (disorder) {79410001 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Genitourinary congenital anomalies (disorder) {287085006 , SNOMED-CT } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Intellectual disability (disorder) {110359009 , 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,