Code System Concept

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Code System Concept

Code System Concept Code	733071009
Code System Concept Name	Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
Code System Preferred Concept Name	Deafness, small bowel diverticulosis, neuropathy 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Superseded By Concept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	07/31/2017
SDO Date Created	07/31/2017
SDO Date Revised	07/31/2017
Description	Syndrome with characteristics of progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis). It has been described in five patients (three sisters in a family and two sisters born to consanguineous parents). This syndrome is transmitted as an autosomal recessive trait.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
3498676019	Deafness, small bowel diverticulosis, neuropathy syndrome	Active	Synonym	false	false
3498677011	Groll Hirschowitz 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 } Autosomal recessive hereditary disorder (disorder) {85995004 , SNOMED-CT } Congenital hearing disorder (disorder) {95827002 , SNOMED-CT } Congenital sensorineural hearing loss (disorder) {700453005 , SNOMED-CT } Digestive system hereditary disorder (disorder) {363080007 , SNOMED-CT } Disorder of digestive system specific to fetus OR newborn (disorder) {42357009 , SNOMED-CT } Disorder of ear (disorder) {25906001 , SNOMED-CT } Disorder of gastrointestinal tract (disorder) {119292006 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Hereditary sensory neuropathy (disorder) {11442006 , SNOMED-CT } Peripheral nerve disease (disorder) {302226006 , SNOMED-CT } Peripheral sensory neuropathy (disorder) {789588003 , 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,