Code System Concept

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Code System Concept

Code System Concept Code	725292008
Code System Concept Name	Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder)
Code System Preferred Concept Name	Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder)
Concept Status	Retired
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Superseded By Concept	Concept Code: 702445005 Concept Name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) Code System: SNOMED-CT
SDO Concept Status	Inactive
SDO Concept Status Date	07/31/2019
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2019
Description	This syndrome has characteristics of slowly progressive spastic paraplegia, skeletal anomalies of the hands and feet with brachydactyly type E, cone-shaped epiphyses, abnormal metaphyseal phalangeal pattern profile, sternal anomaly (pectus carinatum or excavatum), dysarthria and mild intellectual deficit. It has been reported in five patients, among which there were two sets of identical twins. The significance of the relationship between the twinning process and the condition is not clear. The mode of inheritance is unknown but single-gene transmission seems likely.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3440839018	Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Active	Synonym	false	false
3440840016	Fitzsimmons Guilbert syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Disease	8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Brachydactyly syndrome type E (disorder) {63711009 , SNOMED-CT } Congenital paraplegia (disorder) {192949002 , SNOMED-CT } Disorder of epiphysis (disorder) {240172008 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Mental retardation (disorder) {91138005 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , SNOMED-CT } Spastic paraplegia (disorder) {192967009 , 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,