Cutis laxa, neonatal, with marfanoid phenotype

Preferred Label : Cutis laxa, neonatal, with marfanoid phenotype;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Cutis laxa-marfanoid syndrome;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Deficiency of laminin in basement membranes;

Prefixed ID : %614100;

Détails

Origin ID

614100;

UMLS CUI

C0432335;

Currated CISMeF NLP mapping
- Cutis laxa - Marfanoid syndrome [ICD-11 More detail]
- Cutis laxa-Marfanoid syndrome [ORDO Disease]
- Neonatal cutis laxa with marfanoid phenotype (disorder) [SNOMED CT concept]
- cutis Laxa-Marfanoid syndrome [MeSH Supplementary Concept]
- cutis Laxa-Marfanoid syndrome [MeSH concept]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cutis laxa [HPO term]
- Emphysema [HPO term]
- Hip dislocation [HPO term]
ORDO concept(s)
- Cutis laxa-Marfanoid syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cutis laxa - Marfanoid syndrome [ICD-11 More detail]
- Cutis laxa-Marfanoid syndrome [ORDO Disease]
- Neonatal cutis laxa with marfanoid phenotype (disorder) [SNOMED CT concept]
- cutis Laxa-Marfanoid syndrome [MeSH Supplementary Concept]
- cutis Laxa-Marfanoid syndrome [MeSH concept]

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

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