Code System Concept

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Code System Concept

Code System Concept Code	1217372003
Code System Concept Name	Severe myopia, generalized joint laxity, short stature syndrome (disorder)
Code System Preferred Concept Name	Severe myopia, generalized joint laxity, short stature 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Superseded By Concept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	09/01/2022
SDO Date Created	04/30/2022
SDO Date Revised	04/30/2022
Description	A rare developmental defect with connective tissue involvement and characteristics of joint hyperextensibility and multiple dislocations of large joints, severe myopia and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus and progressive hearing loss.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
5036039013	Severe myopia, generalized joint laxity, short stature syndrome	Active	Synonym	false	false
5036040010	Severe myopia, generalised joint laxity, short stature syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital connective tissue disorder (disorder) {363039000 , 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 } Hereditary disorder of the visual system (disorder) {363343008 , SNOMED-CT } Injury of connective tissue (disorder) {385424001 , SNOMED-CT } Multiple dislocations with dysplasia (disorder) {254098000 , SNOMED-CT } Multiple system malformation syndrome (disorder) {82354003 , SNOMED-CT } Musculoskeletal and connective tissue disorder (disorder) {312225001 , SNOMED-CT } Severe myopia (disorder) {34187009 , 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,