OMOP Concept 1076369
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome
StandardConditionSNOMED1340174002Disorder
Maps from
0
Descendants
0
Valid from
1 Jul 2024
Valid to
31 Dec 2099
OMOP concepts
Concept Lookup Tool
Search 11M+ concepts across SNOMED, RxNorm, ICD-10 & LOINC.
Synonyms
Alternative names recorded for Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome across source vocabularies.
- Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome
- Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome (disorder)
- síndrome de retraso del desarrollo, inmunodeficiencia, leucoencefalopatía e hipohomocisteinemia
- síndrome de retraso del desarrollo, inmunodeficiencia, leucoencefalopatía e hipohomocisteinemia (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(43)Roll up to these when you need a wider cohort.
- 1Amino acid below reference range
- 1Combined immunodeficiency disease
- 1Congenital immunodeficiency disease
- 1Developmental delay
- 1Developmental hereditary disorder
- 1Disorder of sulfur-bearing amino acid metabolism
- 1Hereditary disorder of immune system
- 1Inherited metabolic disorder of nervous system
- 1Leukoencephalopathy
- 2Congenital disease
- 2Developmental disorder
- 2Disorder of amino acid and organic acid metabolism
- 2Disorder of brain
- 2Disorder of immune function
- 2Finding of amino acid level
- 2Finding of head region
- 2Hereditary disease
- 2Hereditary disorder by system
- 2Hereditary disorder of nervous system
- 2Immunodeficiency disorder
- 2Inborn error of metabolism
- 2Measurement finding below reference range
- 2Primary immune deficiency disorder
- 3Disease
- 3Disorder of amino acid metabolism
Showing 25 of 43. Retrieve the full set via the API.
Get this concept via the API
Resolve Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia 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/1076369?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card