Aplasia cutis congenita with intestinal lymphangiectasia

Preferred Label : Aplasia cutis congenita with intestinal lymphangiectasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Acc with intestinal lymphangiectasia;

Inheritance : Autosomal recessive;

Prefixed ID : 207731;

Details

Origin ID

207731;

UMLS CUI

C1859753;

CISMeF manual mappings
- Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Aplasia cutis congenita - intestinal lymphangiectasia [ICD-11 More detail]
- Aplasia cutis congenita intestinal lymphangiectasia [MeSH concept]
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome [ORDO Disease]
- aplasia cutis congenita intestinal lymphangiectasia [MeSH Supplementary Concept]
HPO term(s)
- Abnormal bleeding [HPO term]
- Abnormal paranasal sinus morphology [HPO term]
- Aplasia cutis congenita over the scalp vertex [HPO term]
- Autosomal recessive inheritance [HPO term]
- Generalized edema [HPO term]
- Hypoproteinemia [HPO term]
- Intestinal lymphangiectasia [HPO term]
- Lymphopenia [HPO term]
ORDO concept(s)
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aplasia cutis congenita intestinal lymphangiectasia [MeSH concept]
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome [ORDO Disease]
- aplasia cutis congenita intestinal lymphangiectasia [MeSH Supplementary Concept]

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