OMOP Concept 4031489

Sandhoff disease

StandardConditionSNOMED23849003Disorder
Maps from
4
Descendants
3
Valid from
31 Jan 2002
Valid to
31 Dec 2099
OMOP concepts

Concept Lookup Tool

Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.

Or try
DiabetesHypertensionAspirin

Source codes that map to this concept

4 source codes normalize to Sandhoff disease via the OMOP "Maps to" relationship.

VocabularyCodeNameType
CIEL127187Sandhoff DiseaseNon-standard
ICD10CME75.01Sandhoff diseaseNon-standard
MeSHD012497Sandhoff DiseaseNon-standard
ReadF101600Sandhoff diseaseNon-standard

Synonyms

Alternative names recorded for Sandhoff disease across source vocabularies.

  • deficiencia de hexosaminidasa A y B
  • enfermedad de Sandhoff
  • gangliosidosis GM>2<, tipo 2
  • gangliosidosis GM2, tipo 2
  • gangliosidosis GM>2<, tipo 2 (trastorno)
  • gangliosidosis GM<sub>2</sub>, tipo 2
  • GM2 gangliosidosis, type 2
  • GM>2< gangliosidosis, type 2
  • GM<sub>2</sub> gangliosidosis, type 2
  • Hexosaminidase A AND B deficiency
  • O variant
  • Sandhoff disease (disorder)
  • Total hexosaminidase deficiency

Where it sits in the hierarchy

Ordered by distance - 1 is a direct parent or child.

Broader concepts

(22)

Roll up to these when you need a wider cohort.

Narrower concepts

(3)

Included automatically when you query with descendants.

Get this concept via the API

Resolve Sandhoff disease - 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/4031489?include_relationships=true" \
  -H "Authorization: Bearer $OMOPHUB_API_KEY"
Get your free API key3,000 calls/month free · no credit card