cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Preferred Label : cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities;

MeSH note : LTBP4 mutations;

MeSH synonym : Urban-Rifkin-Davis syndrome;

Details

Origin ID

C567716;

UMLS CUI

C2750804;

Currated CISMeF NLP mapping
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ICD-11 More detail]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ORDO Disease]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) [SNOMED CT concept]
- Cutis laxa, autosomal recessive, type ic [OMIM Phenotype]
- autosomal recessive cutis laxa type IC [DO Concept]
DO Cross reference
- autosomal recessive cutis laxa type IC [DO Concept]
MeSH term(s) associated for indexing
- cartilage diseases [MeSH Descriptor]
- cutis laxa [MeSH Descriptor]
- gastrointestinal diseases [MeSH Descriptor]
- respiratory tract diseases [MeSH Descriptor]
- urologic diseases [MeSH Descriptor]
Record concept(s)
- cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ORDO Disease]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies [ICD-11 More detail]
- Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies (disorder) [SNOMED CT concept]
- Cutis laxa, autosomal recessive, type ic [OMIM Phenotype]
- autosomal recessive cutis laxa type IC [DO Concept]

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