Aplasia cutis congenita, high myopia, and cone-rod dysfunction

Preferred Label : Aplasia cutis congenita, high myopia, and cone-rod dysfunction;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 601075;

Détails

Origin ID

601075;

UMLS CUI

C1832826;

CISMeF manual mappings
- Aplasia cutis with myopia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aplasia cutis - myopia [ICD-11 More detail]
- Aplasia cutis-myopia syndrome [ORDO Disease]
- aplasia cutis congenita, high myopia, and Cone-Rod dysfunction [MeSH concept]
- aplasia cutis congenita, high myopia, and Cone-Rod dysfunction [MeSH Supplementary Concept]
HPO term(s)
- Aplasia cutis congenita of midline scalp vertex [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital nystagmus [HPO term]
- High myopia [HPO term]
ORDO concept(s)
- Aplasia cutis-myopia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aplasia cutis-myopia syndrome [ORDO Disease]
- aplasia cutis congenita, high myopia, and Cone-Rod dysfunction [MeSH Supplementary Concept]
- aplasia cutis congenita, high myopia, and Cone-Rod dysfunction [MeSH concept]

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