Autosomal recessive cutis laxa, type 2A

Preferred Label : Autosomal recessive cutis laxa, type 2A;

ICD-11 definition : Autosomal recessive cutis laxa type 2A (ARCL-2A) is a rare genetic disease resulting from mutations in a gene encoding a proton pump (ATP6V0A2) required for normal Golgi processing of tropoelastin. External manifestations include redundant and wrinkled skin, short nose with broad nasal bridge, down-slanting palpebral fissures, bitemporal narrowing, broad forehead, and retrognathia. It may be associated with severe central nervous system defects including microcephaly, hypotonia, seizures, myopia and neurodegeneration.;

ICD-11 synonym : ARCL-2A - [Autosomal recessive cutis laxa, type 2A] (MIM 219200); Autosomal recessive cutis laxa, Debré type; ARCL-2A - [Autosomal recessive cutis laxa, type 2A];

ICD-11 acronym : ARCL-2A;

Details

Origin ID

956396927;

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]
- 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]
- cutis laxa, autosomal recessive, type IIA [MeSH concept]
- cutis laxa, autosomal recessive, type IIA [MeSH Supplementary Concept]
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]
- 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]
- cutis laxa, autosomal recessive, type IIA [MeSH concept]
- cutis laxa, autosomal recessive, type IIA [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Autosomal recessive cutis laxa type 2 [ORDO Disease]

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