Progressive neurodegeneration - joint laxity - cataract

Preferred Label : Progressive neurodegeneration - joint laxity - cataract;

ICD-11 definition : This syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity. It has been described in two siblings. Paradoxical hyperammonemia with hypoprolinemia and hypoornithinemia were also reported. This syndrome is caused by delta 1-pyrroline 5-carboxylate synthetase deficiency.;

ICD-11 synonym : Delta-1-pyrroline 5-carboxylate synthetase deficiency; Hypoprolinaemia; Paradoxical fasting hyperammonaemia; Hyperammonaemia - hypoornithinaemia - hypocitrullinaemia - hypoargininaemia - hypoprolinaemia;

Details

Origin ID

327253455;

UMLS CUI

C0268354;

CISMeF manual mappings
- Cutis laxa, autosomal recessive, type iiia [OMIM Phenotype]
Currated CISMeF NLP mapping
- ALDH18A1-related De Barsy syndrome [ORDO Disease]
- autosomal recessive cutis laxa type IIIA [DO Concept]
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]

Keyword's position in hierarchy(ies) :

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