Code System Concept

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Code System Concept

Code System Concept Code	56692003
Code System Concept Name	Rhizomelic chondrodysplasia punctata syndrome (disorder)
Code System Preferred Concept Name	Rhizomelic chondrodysplasia punctata 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Superseded By Concept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	01/31/2002
SDO Date Created	01/31/2002
SDO Date Revised	01/31/2002
Description
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
1231632015	RCDP - Rhizomelic chondrodysplasia punctata	Active	Synonym	false	false
1231633013	Chondrodysplasia punctata, autosomal recessive type	Active	Synonym	false	false
1231634019	Rhizomelic chondrodysplasia punctata	Active	Synonym	false	false
94279017	Rhizomelic chondrodysplasia punctata syndrome	Active	Synonym	false	false
94280019	Chondrodysplasia punctata, rhizomelic type	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Birth Defect Diagnosis	1
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7 , 6 , 5 , 4 , 3 , 2 , 1
Problem Value Set	3 , 2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Chondrodysplasia punctata (stippled epiphyses) group (disorder) {278715001 , SNOMED-CT } Congenital deformity (disorder) {276655000 , SNOMED-CT } Connective tissue hereditary disorder (disorder) {363045008 , SNOMED-CT } Deformation of bone (finding) {298356007 , SNOMED-CT } Deformity (finding) {417893002 , SNOMED-CT } Deformity of bone (disorder) {271084006 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Disorder of epiphysis (disorder) {240172008 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Loss of multiple peroxisomal functions (disorder) {238063003 , SNOMED-CT } Metabolic bone disease (disorder) {50279003 , SNOMED-CT }

Other Relationships

No other relationships present.

Child Concepts

Rhizomelic chondrodysplasia punctata syndrome (disorder) {56692003 , SNOMED-CT }

Parent/Child (Relationship Type)

Rhizomelic chondrodysplasia punctata type 1 (disorder) {1003862001 , SNOMED-CT } Rhizomelic chondrodysplasia punctata type 2 (disorder) {1003860009 , SNOMED-CT } Rhizomelic chondrodysplasia punctata type 3 (disorder) {1003858007 , SNOMED-CT }

Page last reviewed:June 20, 2024
Page last updated:June 20, 2024
Content source:
- Centers for Disease Control and Prevention,