Brittle cornea syndrome 1

Preferred Label : Brittle cornea syndrome 1;

Définition CISMeF : Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.;

CISMeF synonym : adducted Thumb-Clubfoot syndrome; arthrogryposis, distal, with peculiar facies and hydronephrosis; adducted thumb-club foot syndrome; adducted thumbs dundar type;

MeSH synonym : corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility; fragilitas oculi with joint hyperextensibility; brittle cornea syndrome; Ehlers-Danlos syndrome, type VIB; dysgenesis mesodermalis corneae et sclerae; Ehlers-Danlos syndrome 6B;

Details

Origin ID

C536192;

UMLS CUI

C0268344;

Automatic exact mappings (from CISMeF team)
- Musculocontractural Ehlers-Danlos syndrome [ORDO Disease]
CISMeF manual mappings
- Brittle cornea syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Brittle cornea syndrome (disorder) [SNOMED CT concept]
- Brittle cornea syndrome 1 [OMIM Phenotype]
- Corneal fragility keratoglobus, blue sclerae AND joint hypermobility (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome type 6B [ICD-11 More detail]
- brittle cornea syndrome [Disease (Nov.)]
- brittle cornea syndrome 1 [DO Concept]
- corneal fragility keratoglobus, blue sclerae and joint hypermobility [SNOMED Notion]
MeSH term(s) associated for indexing
- ehlers-danlos syndrome [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- joint instability [MeSH Descriptor]
- skin abnormalities [MeSH Descriptor]
Record concept(s)
- Brittle cornea syndrome 1 [MeSH concept]
See also inter- (CISMeF)
- Ehlers Danlos syndrome type VI B [Disease (Nov.)]
- Ehlers-danlos syndrome, musculocontractural type, 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brittle cornea syndrome [ORDO Disease]
- Brittle cornea syndrome (disorder) [SNOMED CT concept]
- Brittle cornea syndrome 1 [OMIM Phenotype]
- brittle cornea syndrome [Disease (Nov.)]
- corneal fragility keratoglobus, blue sclerae and joint hypermobility [SNOMED Notion]
Validated automatic mappings to NTBT
- Brittle cornea syndrome [OMIM phenotypic series]

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