Code System Concept

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Code System Concept

Code System Concept Code	1172604004
Code System Concept Name	Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder)
Code System Preferred Concept Name	Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia 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Superseded By Concept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	09/01/2022
SDO Date Created	09/30/2021
SDO Date Revised	09/30/2021
Description	A rare genetic disease with characteristics of progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency.
Sequence

Extended Properties

No extended properties.

Concept Alternate Designations

SDO Designation ID	Concept Designation Description	Status	Designation Type	PHIN Preferred Term Flag	Code Flag
4634555013	DIAPH1-related sensorineural deafness, thrombocytopenia syndrome	Active	Synonym	false	false
4634556014	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Active	Synonym	false	false
4634560012	Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome	Active	Synonym	false	false

Associated Value Sets

Value Set Name	Version(s)
Clinical Finding (NNDSS)	2 , 1

Parent Concepts

Parent Concepts

Parent/Child (Relationship Type)

Auditory system hereditary disorder (disorder) {362991006 , SNOMED-CT } Autosomal dominant hereditary disorder (disorder) {11164009 , SNOMED-CT } Chronic disease (disorder) {27624003 , SNOMED-CT } Hearing loss associated with syndrome (disorder) {232333009 , SNOMED-CT } Hereditary thrombocytopenic disorder (disorder) {438492008 , 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,