Code System Concept

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Code System Concept

Code System Concept Code	766819001
Code System Concept Name	Severe lateral tibial bowing with short stature (disorder)
Code System Preferred Concept Name	Severe lateral tibial bowing with short stature (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Superseded By Concept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	07/31/2018
SDO Date Created	07/31/2018
SDO Date Revised	07/31/2018
Description	A rare genetic primary bent bone dysplasia characterized by significant, uni/bilateral, lateral tibial bowing localized to the distal two-thirds of the tibia, with respective cortical thickening and thinning of the inner and outer tibial curve, loss of normal trabecular bone, bilateral abnormalities of the tibial epiphyses and growth plates, as well as foot abnormalities, including abnormally high arches. Affected individuals have short stature with absence of other skeletal abnormalities.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3662729010	Severe lateral tibial bowing with short stature	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Bent bone dysplasia group (disorder) {278832007 , SNOMED-CT } Congenital abnormal shape of tibia (disorder) {92954007 , SNOMED-CT } Congenital angulation of tibia (disorder) {205395006 , SNOMED-CT } Congenital bowing of long bone (disorder) {716098006 , SNOMED-CT } Congenital bowing of tibia and/or fibula (disorder) {9252005 , SNOMED-CT } Congenital leg bone bowing (disorder) {253947001 , SNOMED-CT } Deformity of tibia (disorder) {271094001 , SNOMED-CT } Short stature disorder (disorder) {237836003 , 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,