OMOP Concept 36717138
Ehlers-Danlos syndrome kyphoscoliotic and deafness type
StandardConditionSNOMED720859009Disorder
Maps from
1
Descendants
0
Valid from
31 Jan 2017
Valid to
31 Dec 2099
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Source codes that map to this concept
1 source code normalizes to Ehlers-Danlos syndrome kyphoscoliotic and deafness type via the OMOP "Maps to" relationship.
| Vocabulary | Code | Name | Type |
|---|---|---|---|
| Nebraska Lexicon | 720859009 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness | Non-standard |
Synonyms
Alternative names recorded for Ehlers-Danlos syndrome kyphoscoliotic and deafness type across source vocabularies.
- Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder)
- Ehlers-Danlos syndrome kyphoscoliotic and hearing loss type
- Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- síndrome de Ehlers-Danlos cifoescoliótico por deficiencia de FKBP22
- síndrome de Ehlers-Danlos con cifoescoliosis, miopatía e hipoacusia
- síndrome de Ehlers-Danlos tipo cifoescoliótico con sordera
- síndrome de Ehlers-Danlos tipo cifoescoliótico con sordera (trastorno)
Where it sits in the hierarchy
Ordered by distance - 1 is a direct parent or child.
Broader concepts
(73)Roll up to these when you need a wider cohort.
- 1Auditory system hereditary disorder
- 1Ehlers-Danlos syndrome kyphoscoliotic type
- 1Hearing loss associated with syndrome
- 1Sensorineural hearing loss
- 2Autosomal recessive hereditary disorder
- 2Congenital kyphoscoliosis
- 2Disorder of auditory system
- 2Ehlers-Danlos syndrome
- 2Hearing loss
- 2Hereditary disorder by system
- 3Autosomal hereditary disorder
- 3Congenital anomaly of skeletal bone
- 3Congenital anomaly of skin
- 3Congenital connective tissue disorder
- 3Congenital kyphosis
- 3Connective tissue hereditary disorder
- 3Developmental hereditary disorder
- 3Disorder of body system
- 3Ear and auditory finding
- 3Hearing disorder
- 3Hereditary disease
- 3Hereditary disorder of musculoskeletal system
- 3Hereditary disorder of the integument
- 3Kyphoscoliosis deformity of spine
- 3Metabolic bone disease
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