Code System Concept

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Code System Concept

Code System Concept Code	733030003
Code System Concept Name	Congenital hypoplasia of ulna and split foot syndrome (disorder)
Code System Preferred Concept Name	Congenital hypoplasia of ulna and split foot 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Superseded By Concept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	Syndrome with the association of severe ulnar hypoplasia, absence of fingers two to five and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3498603011	Van den Berghe Dequecker syndrome	Active	Synonym	false	false
3498605016	Ulnar hypoplasia lobster-claw deformity of feet syndrome	Active	Synonym	false	false
3498606015	Congenital hypoplasia of ulna and split foot 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)

Congenital absence of finger (disorder) {48301005 , SNOMED-CT } Congenital hypoplasia of ulna (disorder) {93300007 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , SNOMED-CT } Split foot (disorder) {205358006 , 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,