cutis laxa, autosomal recessive, type IIA

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

MeSH note : PROM mutation in ATP6V0A2 gene;

MeSH synonym : cutis laxa with bone dystrophy; cutis laxa, debre type; cutis laxa with joint laxity and retarded development; cutis laxa with or without congenital disorder of glycosylation; ARCL2A; cutis laxa with growth and developmental delay;

Détails

Origin ID

C562632;

UMLS CUI

C0268355;

Currated CISMeF NLP mapping
- Autosomal recessive cutis laxa type 2A [ORDO Disease]
- Autosomal recessive cutis laxa type 2A (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2A [ICD-11 More detail]
- Cutis laxa with osteodystrophy (disorder) [SNOMED CT concept]
- Cutis laxa, autosomal recessive, type iia [OMIM Phenotype]
- autosomal recessive cutis laxa type IIA [DO Concept]
- autosomal recessive cutis laxa type IIA [Disease (Nov.)]
- cutis laxa with osteodystrophy [SNOMED Notion]
MeSH term(s) associated for indexing
- cutis laxa [MeSH Descriptor]
Record concept(s)
- cutis laxa, autosomal recessive, type IIA [MeSH concept]
See also inter- (CISMeF)
- Autosomal recessive cutis laxa, type 2B [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive cutis laxa type 2A [ORDO Disease]
- Autosomal recessive cutis laxa type 2A (disorder) [SNOMED CT concept]
- Autosomal recessive cutis laxa, type 2A [ICD-11 More detail]
- Cutis laxa with osteodystrophy (disorder) [SNOMED CT concept]
- Cutis laxa, autosomal recessive, type iia [OMIM Phenotype]
- autosomal recessive cutis laxa type IIA [DO Concept]
- autosomal recessive cutis laxa type IIA [Disease (Nov.)]
- cutis laxa with osteodystrophy [SNOMED Notion]
Validated automatic mappings to NTBT
- Autosomal recessive cutis laxa type 2 [ORDO Disease]

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

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