cutis laxa, autosomal recessive, type IIB

Preferred Label : cutis laxa, autosomal recessive, type IIB;

MeSH note : mutation in PYCR1;

MeSH synonym : cutis laxa with progeroid features; ARCL2B;

Détails

Origin ID

C567855;

UMLS CUI

C2751987;

Currated CISMeF NLP mapping
- Autosomal recessive cutis laxa type 2B [ORDO Disease]
- Autosomal recessive cutis laxa type 2B (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2B [ICD-11 More detail]
- Cutis laxa, autosomal recessive, type iib [OMIM Phenotype]
- autosomal recessive cutis laxa type IIB [DO Concept]
- autosomal recessive cutis laxa type IIB [Disease (Nov.)]
MeSH term(s) associated for indexing
- cutis laxa [MeSH Descriptor]
Record concept(s)
- cutis laxa, autosomal recessive, type IIB [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cutis laxa type 2B [ORDO Disease]
- Autosomal recessive cutis laxa type 2B (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2B [ICD-11 More detail]
- Cutis laxa, autosomal recessive, type iib [OMIM Phenotype]
- autosomal recessive cutis laxa type IIB [DO Concept]
- autosomal recessive cutis laxa type IIB [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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