OMOP Concept 4033911
Amelocerebrohypohidrotic syndrome
StandardConditionSNOMED109478007Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Source codes that map to this concept
1 source code normalizes to Amelocerebrohypohidrotic syndrome via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C537213 | Kohlschutter Tonz syndrome | Non-standard |
Synonyms
Alternative names recorded for Amelocerebrohypohidrotic syndrome across source vocabularies.
- Amelocerebrohypohidrotic syndrome (disorder)
- epilepsia, demencia y amelogénesis imperfecta
- epilepsia, deterioro mental y dientes amarillos
- Epilepsy, dementia and amelogenesis imperfecta
- Epilepsy, mental deterioration and yellow teeth
- Kohlschutter's syndrome
- Kohlschutter syndrome
- Kohlschütter Tönz syndrome
- síndrome amelocerebrohipohidrótico
- síndrome amelocerebrohipohidrótico (trastorno)
- síndrome de Kohlschutter
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(87)Roll up to these when you need a wider cohort.
- 1Abnormal nervous system function
- 1Amelogenesis imperfecta
- 1Autosomal recessive hereditary disorder
- 1Ectodermal dysplasia with tooth-sweating defect
- 1Epilepsy
- 1Genetic intellectual disability
- 1Hereditary disorder of nervous system
- 1Hereditary disorder of the integument
- 2Autosomal hereditary disorder
- 2Congenital anomaly of tooth
- 2Developmental hereditary disorder
- 2Disorder of hard tissues of teeth
- 2Disorder of integument
- 2Disorder of nervous system
- 2Ectodermal dysplasia with sweating defect
- 2Functional finding
- 2Genetic disease
- 2Hereditary disorder by system
- 2Hereditary disorder of tooth
- 2Intellectual disability
- 2Neurological finding
- 2OMOP Seizure 1
- 2Seizure disorder
- 3Abnormal behavior
- 3Clinical finding
Showing 25 of 87. Retrieve the full set via the API.
Get this concept via the API
Resolve Amelocerebrohypohidrotic 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/4033911?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card