Code System Concept

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Code System Concept

Code System Concept Code	716192009
Code System Concept Name	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)
Code System Preferred Concept Name	Short stature and deafness with neutrophil dysfunction and facial dysmorphism 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Superseded By Concept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	07/31/2016
SDO Date Created	07/31/2016
SDO Date Revised	07/31/2016
Description	This syndrome has characteristics of short stature, sensorineural deafness, mutism, facial dysmorphism and abnormal neutrophil chemotaxis (leading to recurrent infections). It has been described in two siblings.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3305037015	Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome	Active	Synonym	false	false
3305038013	Thong Douglas Ferrante syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1
Disease	10 , 9 , 8 , 7
Problem Value Set	3

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Congenital hearing disorder (disorder) {95827002 , SNOMED-CT } Developmental hereditary disorder (disorder) {363070008 , SNOMED-CT } Heritable disorder of neutrophil function (disorder) {402794002 , SNOMED-CT } Multiple malformation syndrome, moderate short stature, facial (disorder) {77701002 , SNOMED-CT } Sensorineural hearing loss (disorder) {60700002 , 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,