Autosomal recessive cutis laxa, type 3

Preferred Label : Autosomal recessive cutis laxa, type 3;

ICD-11 definition : Autosomal recessive cutis laxa, type 3 (De Barsy syndrome) is a rare syndrome characterised by distinctive facial features, cutis laxa and mental retardation. Other distinguishing features include bilateral corneal opacification, progeroid appearance, reduced subcutaneous fat, and athetoid movements early in life. The genetic cause remains poorly defined though there is some evidence that mutations both of ATP6V0A2 and of PYCR1 may be associated with this phenotype.;

ICD-11 synonym : Progeroid syndrome, De Barsy type; ARCL-3 - [Autosomal recessive cutis laxa, type 3] (MIM 219150); Cutis laxa - corneal clouding - intellectual deficit; De Barsy syndrome; ARCL-3 - [Autosomal recessive cutis laxa, type 3];

ICD-11 acronym : ARCL-3;

ICD-11 inclusion : De Barsy syndrome;

Détails

Origin ID

1718974486;

UMLS CUI

C0268354;

Automatic exact mappings (from CISMeF team)
- De Barsy syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) [SNOMED CT concept]
- De Barsy syndrome [MeSH concept]
- De Barsy syndrome [PASCAL descriptor]
- De Barsy syndrome [ORDO Disease]
- De Barsy syndrome [Disease (Nov.)]
- 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]
- de barsy syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Cutis laxa, autosomal recessive, type iiia [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ALDH18A1-related De Barsy syndrome [ORDO Disease]
- Cutis laxa, autosomal recessive, type iiia [OMIM Phenotype]
- Cutis laxa-corneal clouding-oligophrenia syndrome (disorder) [SNOMED CT concept]
- De Barsy syndrome [MeSH concept]
- De Barsy syndrome [Disease (Nov.)]
- De Barsy syndrome [ORDO Disease]
- De Barsy syndrome [PASCAL descriptor]
- De Barsy syndrome [MedDRA Preferred Term]
- 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]
- de barsy syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- autosomal recessive cutis laxa type IIIA [DO Concept]

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