de barsy syndrome

Preferred Label : de barsy syndrome;

MeSH synonym : de barsy moens diercks syndrome; progeroid syndrome of de barsy; corneal clouding cutis laxa mental retardation; cutis laxa, corneal clouding, and mental retardation;

Details

Origin ID

C535990;

UMLS CUI

C0268354;

Automatic exact mappings (from CISMeF team)
- Cutis laxa, autosomal recessive, type iiib [OMIM Phenotype]
- De Barsy syndrome [MedDRA Preferred Term]
- autosomal recessive cutis laxa type IIIA [DO Concept]
Currated CISMeF NLP mapping
- Autosomal recessive cutis laxa, type 3 [ICD-11 More detail]
- Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) [SNOMED CT concept]
- De Barsy syndrome [PASCAL descriptor]
- De Barsy syndrome [Disease (Nov.)]
- De Barsy syndrome [ORDO Disease]
- autosomal recessive cutis laxa type III [DO Concept]
- autosomal recessive cutis laxa type III [Disease (Nov.)]
- cutis laxa-corneal clouding-oligophrenia syndrome [SNOMED Notion]
- de Barsy syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- autosomal recessive cutis laxa type III [DO Concept]
MeSH term(s) associated for indexing
- corneal opacity [MeSH Descriptor]
- cutis laxa [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- De Barsy syndrome [ORDO Disease]
Record concept(s)
- De Barsy syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALDH18A1-related De Barsy syndrome [ORDO Disease]
- Autosomal recessive cutis laxa, type 3 [ICD-11 More detail]
- Cutis laxa, autosomal recessive, type iiia [OMIM Phenotype]
- Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) [SNOMED CT concept]
- De Barsy syndrome [ORDO Disease]
- De Barsy syndrome [PASCAL descriptor]
- De Barsy syndrome [Disease (Nov.)]
- De Barsy syndrome [MedDRA Preferred Term]
- Progressive neurodegeneration - joint laxity - cataract [ICD-11 More detail]
- autosomal recessive cutis laxa type III [DO Concept]
- autosomal recessive cutis laxa type III [Disease (Nov.)]
- autosomal recessive cutis laxa type IIIA [DO Concept]
- cutis laxa-corneal clouding-oligophrenia syndrome [SNOMED Notion]
- de Barsy syndrome (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Cutis laxa, autosomal recessive, type iiia [OMIM Phenotype]

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