OMOP Concept 37160944
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
StandardConditionSNOMED1172604004Disorder
Maps from
0
Descendants
0
Valid from
30 Sept 2021
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome across source vocabularies.
- DIAPH1-related sensorineural deafness, thrombocytopenia syndrome
- Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome
- Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome (disorder)
- síndrome de hipoacusia neurosensorial - trombocitopenia asociado al gen DIAPH1
- síndrome de hipoacusia neurosensorial - trombocitopenia asociado al gen DIAPH1 (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(38)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Autosomal dominant hereditary disorder
- 1Chronic disease
- 1Hearing loss associated with syndrome
- 1Hereditary thrombocytopenic disorder
- 1Sensorineural hearing loss
- 2Autosomal hereditary disorder
- 2Disease
- 2Disorder of auditory system
- 2Hearing loss
- 2Hereditary disorder by system
- 2Inherited platelet disorder
- 2Thrombocytopenic disorder
- 3Clinical finding
- 3Disorder of body system
- 3Ear and auditory finding
- 3Hearing disorder
- 3Hereditary disease
- 3Hereditary disorder of cellular element of blood
- 3Platelet count below reference range
- 3Platelet disorder
- 4Cytopenia
- 4Disorder of cellular component of blood
- 4Disorder of hemostatic system
- 4Genetic disease
Get this concept via the API
Resolve DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome - and every code that maps to it - over HTTPS, against the current vocabulary release. No downloads, no local database.
curl "https://api.omophub.com/v1/concepts/37160944?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card