Ehlers-Danlos syndrome type 6B

Preferred Label : Ehlers-Danlos syndrome type 6B;

ICD-11 definition : Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma. It generally progresses to blindness.;

ICD-11 synonym : Brittle cornea syndrome;

Details

Origin ID

1804721048;

Currated CISMeF NLP mapping
- Brittle cornea syndrome [ORDO Disease]
- Brittle cornea syndrome (disorder) [SNOMED CT concept]
- Brittle cornea syndrome 1 [OMIM Phenotype]
- Brittle cornea syndrome 1 [MeSH concept]
- Brittle cornea syndrome 1 [MeSH Supplementary Concept]
- brittle cornea syndrome 1 [DO Concept]
Validated automatic mappings to NTBT
- Brittle cornea syndrome [OMIM phenotypic series]

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