Code System Concept

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Code System Concept

Code System Concept Code	722211006
Code System Concept Name	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder)
Code System Preferred Concept Name	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly 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Superseded By Concept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	A very rare heart-hand syndrome that has characteristics of a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant although X-linked dominance could not 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
3331167016	Patent ductus arteriosus, bicuspid aortic valve, hand anomaly 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)

Cardiovascular system hereditary disorder (disorder) {363005004 , SNOMED-CT } Congenital anomaly of cardiovascular structure of trunk (disorder) {363028003 , SNOMED-CT } Congenital anomaly of hand (disorder) {34111000 , SNOMED-CT } Congenital dysplasia of limb (disorder) {88631000119105 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Dysostosis (disorder) {109420003 , SNOMED-CT } Finding of bone in hand (finding) {299043001 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , 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,