OMOP Concept 36715310
Ehlers-Danlos syndrome progeroid type
StandardConditionSNOMED720861000Disorder
Maps from
2
Descendants
0
Valid from
31 Jan 2017
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
2 source codes normalize to Ehlers-Danlos syndrome progeroid type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| MeSH | C536201 | Ehlers-Danlos syndrome, progeroid form | Non-standard |
| Nebraska Lexicon | 720861000 | Xylosylprotein 4-beta-galactosyltransferase deficiency | Non-standard |
Synonyms
Alternative names recorded for Ehlers-Danlos syndrome progeroid type across source vocabularies.
- B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome)
- biosíntesis defectuosa de proteodermatán sulfato
- Defective biosynthesis of proteodermatan sulfate
- Defective biosynthesis of proteodermatan sulphate
- deficiencia de galactosiltransferasa I
- deficiencia de xilosilproteína 4-beta-galactosiltransferasa
- Ehlers-Danlos syndrome progeroid type (disorder)
- Galactosyltransferase I deficiency
- síndrome de Ehlers-Danlos tipo progeroide
- síndrome de Ehlers-Danlos tipo progeroide (trastorno)
- Xylosylprotein 4-beta-galactosyltransferase deficiency
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(61)Roll up to these when you need a wider cohort.
- 1Autosomal recessive hereditary disorder
- 1Dysplasia with increased bone density
- 1Premature aging syndrome
- 1Spondylodysplastic Ehlers-Danlos syndrome
- 2Autosomal hereditary disorder
- 2Bone density above reference range
- 2Disorder of bone
- 2Disorder of skin
- 2Ehlers-Danlos syndrome
- 2Hereditary disorder of the integument
- 2Inborn error of metabolism
- 2Skeletal dysplasia
- 3Bone densimetry abnormal
- 3Bone density finding
- 3Bone finding
- 3Congenital anomaly of musculoskeletal system
- 3Congenital anomaly of skeletal bone
- 3Congenital anomaly of skin
- 3Congenital connective tissue disorder
- 3Congenital disease
- 3Connective tissue hereditary disorder
- 3Developmental hereditary disorder
- 3Disorder of integument
- 3Disorder of skeletal system
- 3Disorder of skin and/or subcutaneous tissue
Get this concept via the API
Resolve Ehlers-Danlos syndrome progeroid type - 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/36715310?include_relationships=true" \
-H "Authorization: Bearer $OMOPHUB_API_KEY"Get your free API key3,000 calls/month free · no credit card