Autosomal recessive cutis laxa, type 2B

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

ICD-11 definition : Autosomal recessive cutis laxa, type 2B (ARCL-2B) is characterized by wrinkled inelastic skin, especially on the dorsa of the extremities and on the abdomen, osteoporosis, hip dislocation, intrauterine and postnatal growth retardation and developmental delay. Distinctive features include triangular dysmorphic facies with progeroid appearance, bulbous nose, prognathism, hypotelorism, epicanthal folds, blue sclerae, large ears and microcephaly. Some of these features overlap with those of geroderma osteodysplasticum, ARCL-2A, wrinkled skin syndrome and ARCL-3 (De Barsy syndrome). ARCL-IIB results from mutations in the PYCR1 gene, which encodes a mitochondrial enzyme involved in proline metabolism.;

ICD-11 synonym : ARCL-2B - [Autosomal recessive cutis laxa, type 2B] (MIM 612940); Cutis laxa with joint laxity and developmental delay; Cutis laxa with bone dystrophy; ARCL-2B - [Autosomal recessive cutis laxa, type 2B];

ICD-11 acronym : ARCL-2B;

Details

Origin ID

1052317213;

UMLS CUI

C2751987;

Automatic exact mappings (from CISMeF team)
- Cutis laxa with osteodystrophy (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal recessive cutis laxa type 2B [ORDO Disease]
- Autosomal recessive cutis laxa type 2B (disorder) [SNOMED CT concept]
- Cutis laxa, autosomal recessive, type iib [OMIM Phenotype]
- autosomal recessive cutis laxa type IIB [Disease (Nov.)]
- autosomal recessive cutis laxa type IIB [DO Concept]
- cutis laxa, autosomal recessive, type IIB [MeSH concept]
- cutis laxa, autosomal recessive, type IIB [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Cutis laxa, autosomal recessive, type iia [OMIM Phenotype]
- 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 2B [ORDO Disease]
- Autosomal recessive cutis laxa type 2B (disorder) [SNOMED CT concept]
- Cutis laxa, autosomal recessive, type iib [OMIM Phenotype]
- autosomal recessive cutis laxa type IIB [DO Concept]
- autosomal recessive cutis laxa type IIB [Disease (Nov.)]
- cutis laxa, autosomal recessive, type IIB [MeSH concept]
- cutis laxa, autosomal recessive, type IIB [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Autosomal recessive cutis laxa type 2 [ORDO Disease]

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