Cataract and congenital ichthyosis

Preferred Label : Cataract and congenital ichthyosis;

Type : Phenotype or locus, molecular basis unknown;

Inheritance : Autosomal recessive;

Prefixed ID : %212400;

Détails

Origin ID

212400;

UMLS CUI

C1859315;

Currated CISMeF NLP mapping
- Cataract and congenital ichthyosis [MeSH concept]
- Congenital cataract ichthyosis syndrome (disorder) [SNOMED CT concept]
- Congenital cataract-ichthyosis syndrome [ORDO Disease]
- cataract and congenital ichthyosis [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Congenital ichthyosiform erythroderma [HPO term]
- Congenital ichthyosis [HPO term]
ORDO concept(s)
- Congenital cataract-ichthyosis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cataract and congenital ichthyosis [MeSH concept]
- Congenital cataract-ichthyosis syndrome [ORDO Disease]
- cataract and congenital ichthyosis [MeSH Supplementary Concept]

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

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