OMOP Concept 4106173
Ehlers-Danlos syndrome, hydroxylysine-deficient
StandardConditionSNOMED25606004Disorder
Maps from
3
Descendants
0
Valid from
31 Jan 2002
Valid to
31 Dec 2099
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Source codes that map to this concept
3 source codes normalize to Ehlers-Danlos syndrome, hydroxylysine-deficient via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| CIEL | 118694 | Ehlers-Danlos Syndrome, Hydroxylysine-Deficient | Non-standard |
| MeSH | C536198 | Ehlers-Danlos syndrome type 6 | Non-standard |
| Read | PGy2500 | Ehlers-Danlos syndrome type VI | Non-standard |
Synonyms
Alternative names recorded for Ehlers-Danlos syndrome, hydroxylysine-deficient across source vocabularies.
- deficiencia de protocolágeno lisil hidroxilasa
- Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder)
- Ehlers-Danlos syndrome, lysyl hydroxylase deficient
- Ehlers-Danlos syndrome type 6A
- Hydroxylysine-deficient collagen disease
- Ocular scoliotic EDS (Ehlers-Danlos syndrome)
- Protocollagen lysyl hydroxylase deficiency
- síndrome de Ehlers-Danlos, deficiencia de hidroxilisina
- síndrome de Ehlers-Danlos, deficiencia de hidroxilisina (trastorno)
- síndrome de Ehlers-Danlos por deficiencia de lisil hidroxilasa
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(67)Roll up to these when you need a wider cohort.
- 1Ehlers-Danlos syndrome kyphoscoliotic type
- 2Autosomal recessive hereditary disorder
- 2Congenital kyphoscoliosis
- 2Ehlers-Danlos syndrome
- 3Autosomal hereditary disorder
- 3Congenital anomaly of skeletal bone
- 3Congenital anomaly of skin
- 3Congenital connective tissue disorder
- 3Congenital kyphosis
- 3Congenital scoliosis deformity of spine
- 3Connective tissue hereditary disorder
- 3Developmental hereditary disorder
- 3Hereditary disorder of musculoskeletal system
- 3Hereditary disorder of the integument
- 3Kyphoscoliosis deformity of spine
- 3Lesion of bone
- 3Metabolic bone disease
- 3Metabolic disease of collagen
- 3Musculoskeletal and connective tissue disorder
- 3Skeletal dysplasia
- 3Skin lesion
- 4Congenital anomaly of integument
- 4Congenital anomaly of musculoskeletal system
- 4Congenital anomaly of vertebral region of back
- 4Congenital deformity of musculoskeletal system
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