cutis laxa - CISMeF

Preferred Label : cutis laxa;

MeSH definition : A group of connective tissue diseases in which skin hangs in loose pendulous folds. It is believed to be associated with decreased elastic tissue formation as well as an abnormality in elastin formation. Cutis laxa is usually a genetic disease, but acquired cases have been reported. (From Dorland, 27th ed);

MeSH synonym : dermatolyses; dermatomegaly; dermatolysis;

MeSH annotation : do not confuse with ANETODERMA; CUTIS LAXA is mostly a genetic disease: both are described as loose skin;

Wikipedia link : https://en.wikipedia.org/wiki/Cutis laxa;

Details

Origin ID

D003483;

UMLS CUI

C0010495;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Cutis Laxa [NCIt concept]
- Cutis laxa [PASCAL descriptor]
- Cutis laxa [MedDRA Preferred Term]
- Cutis laxa [ICD-11 Subcategory]
- Cutis laxa [OMIM phenotypic series]
- Cutis laxa [HPO term]
- Cutis laxa [ORDO Disease]
- Cutis laxa (disorder) [SNOMED CT concept]
- Dermatolysis [MedDRA LLT]
- cutis laxa [DO Concept]
- cutis laxa [Disease (Nov.)]
- cutis laxa, nos [SNOMED Notion]
DO Cross reference
- cutis laxa [DO Concept]
HPO term
- Cutis laxa [HPO term]
Manual NTBT mappings (CISMeF)
- Autosomal dominant cutis laxa [ORDO Disease]
- Autosomal recessive cutis laxa type 1 [ORDO Disease]
- Dermis elastic tissue disorder [ORDO Disease]
- Rare developmental defect with connective tissue involvement [ORDO Disease]
- Rare developmental defect with skin/mucosae involvement [ORDO Disease]
- Syndromic diaphragmatic or abdominal wall malformation [ORDO Disease]
- Syndromic diaphragmatic or thoracic malformation [ORDO Disease]
ORDO relation(s)
- Cutis laxa [ORDO Disease]
Record concept(s)
- cutis laxa [MeSH concept]
Related MeSH Supplementary Concept(s)
- SCARF syndrome [MeSH Supplementary Concept]
- cutis Laxa-Marfanoid syndrome [MeSH Supplementary Concept]
- cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities [MeSH Supplementary Concept]
- cutis laxa, autosomal dominant [MeSH Supplementary Concept]
- cutis laxa, autosomal recessive, type I [MeSH Supplementary Concept]
- cutis laxa, autosomal recessive, type IIA [MeSH Supplementary Concept]
- cutis laxa, autosomal recessive, type IIB [MeSH Supplementary Concept]
- cutis laxa, recessive [MeSH Supplementary Concept]
- de barsy syndrome [MeSH Supplementary Concept]
- generalized elastolysis [MeSH Supplementary Concept]
- hemolytic anemia, congenital, with emphysema and cutis laxa [MeSH Supplementary Concept]
- macrocephaly, alopecia, cutis laxa, and scoliosis [MeSH Supplementary Concept]
- michelin tire baby syndrome [MeSH Supplementary Concept]
- occipital horn syndrome [MeSH Supplementary Concept]
- wrinkly skin syndrome [MeSH Supplementary Concept]
See also
- anetoderma [MeSH Descriptor]
- ehlers-danlos syndrome [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutis Laxa [NCIt concept]
- Cutis laxa [ORDO Disease]
- Cutis laxa [HPO term]
- Cutis laxa [MedDRA Preferred Term]
- Cutis laxa (disorder) [SNOMED CT concept]
- Dermatolysis [MedDRA LLT]
- Skin laxity [MedDRA LLT]
- Skin laxity [MedDRA Preferred Term]
- cutis laxa [DO Concept]
- cutis laxa [Disease (Nov.)]
- cutis laxa, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Autosomal recessive cutis laxa type 2 [ORDO Disease]

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