Ehlers-Danlos syndrome type 6

Preferred Label : Ehlers-Danlos syndrome type 6;

CISMeF synonym : Ehlers-Danlos syndrome, kyphoscoliotic type;

CISMeF acronym : EDS VI;

MeSH synonym : Ehlers-Danlos syndrome, type 6 A; Ehlers-Danlos syndrome, oculoscoliotic type; Ehlers-Danlos syndrome, type 6; Ehlers-Danlos syndrome, type VI; Ehlers-Danlos syndrome, type VIA;

Details

Origin ID

C536198;

UMLS CUI

C0268342;

Automatic exact mappings (from CISMeF team)
- Ehlers-Danlos syndrome type 6A [ICD-11 More detail]
- Ehlers-Danlos syndrome, kyphoscoliotic type [ICD-11 More detail]
- Kyphoscoliotic Ehlers-Danlos syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Ehlers Danlos syndrome type VI [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VI [NCIt concept]
- Ehlers-Danlos syndrome kyphoscoliotic type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, kyphoscoliotic type, 1 [OMIM Phenotype]
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
- Nevo syndrome [ICD-11 More detail]
- ehlers-danlos syndrome, hydroxylysine-deficient [SNOMED Notion]
DO Cross reference
- brittle cornea syndrome 1 [DO Concept]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
Record concept(s)
- Ehlers-Danlos syndrome type 6 [MeSH concept]
- Ehlers-Danlos syndrome, kyphoscoliotic type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers Danlos syndrome type VI [Disease (Nov.)]
- Ehlers-Danlos Syndrome, Type VI [NCIt concept]
- Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) [SNOMED CT concept]
- Ehlers-danlos syndrome, kyphoscoliotic type, 1 [OMIM Phenotype]
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency [ORDO Disease]
- brittle cornea syndrome 1 [DO Concept]
- ehlers-danlos syndrome, hydroxylysine-deficient [SNOMED Notion]

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