Code System Concept

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Code System Concept

Code System Concept Code	777998000
Code System Concept Name	Temtamy preaxial brachydactyly syndrome (disorder)
Code System Preferred Concept Name	Temtamy preaxial brachydactyly 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Superseded By Concept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	01/31/2019
SDO Date Created	01/31/2019
SDO Date Revised	01/31/2019
Description	A rare genetic dysostosis syndrome with characteristics of bilateral symmetrical preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (including misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia. There is evidence the disease is caused by homozygous mutation in the CHSY1 gene on chromosome 15q26.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3736348018	Temtamy preaxial brachydactyly syndrome	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)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Brachydactyly (disorder) {43476002 , SNOMED-CT } Congenital anomaly of tooth (disorder) {422977003 , SNOMED-CT } Congenital sensorineural hearing loss (disorder) {700453005 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Disorder of glycoprotein metabolism (disorder) {238045003 , SNOMED-CT } Dysostosis (disorder) {109420003 , SNOMED-CT } Hereditary disorder of musculoskeletal system (disorder) {363212003 , SNOMED-CT } Hereditary disorder of tooth (disorder) {1148766007 , SNOMED-CT } Intellectual disability (disorder) {110359009 , SNOMED-CT } Metabolic bone disease (disorder) {50279003 , SNOMED-CT } Multiple malformation syndrome with limb defect as major feature (disorder) {41443008 , 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,