Lymphangiectasia, pulmonary, congenital

Preferred Label : Lymphangiectasia, pulmonary, congenital;

Symbol : CPL;

CISMeF acronym : CPL;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Pulmonary cystic lymphangiectasis; Lymphangiomatosis, pulmonary;

Inheritance : Autosomal recessive;

Prefixed ID : %265300;

Details

Origin ID

265300;

UMLS CUI

C1849554;

Automatic exact mappings (from CISMeF team)
- Congenital Pulmonary Lymphangiectasia [NCIt concept]
- Congenital pulmonary lymphangiectasia [ICD-11 More detail]
- Pulmonary lymphangiomatosis [PASCAL descriptor]
- chorismate lyase activity [GO term]
- hephaestin [HGNC gene]
Currated CISMeF NLP mapping
- Congenital pulmonary lymphangiectasia [ORDO Disease]
- Congenital pulmonary lymphangiectasis (disorder) [SNOMED CT concept]
- Lymphangiectasia, pulmonary, congenital [MeSH concept]
- Pulmonary lymphangiectasia, congenital [HPO term]
- congenital pulmonary lymphangiectasis [SNOMED Notion]
- lymphangiectasia, pulmonary, congenital [MeSH Supplementary Concept]
HPO term(s)
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bronchodysplasia [HPO term]
- Chylothorax [HPO term]
- Chylous ascites [HPO term]
- Depressed nasal bridge [HPO term]
- Edema [HPO term]
- Facial edema [HPO term]
- Flat face [HPO term]
- Flat, broad nasal bridge [HPO term]
- Hypertelorism [HPO term]
- Malar flattening [HPO term]
- Mild postnatal growth retardation [HPO term]
- Nonimmune hydrops fetalis [HPO term]
- Palpebral edema [HPO term]
- Pectus excavatum [HPO term]
- Pedal edema [HPO term]
- Pleural effusion [HPO term]
- Polyhydramnios [HPO term]
- Pulmonary lymphangiectasia [HPO term]
- Pulmonary lymphangiectasia, congenital [HPO term]
- Recurrent respiratory infections [HPO term]
- Variable expressivity [HPO term]
- Wide nasal bridge [HPO term]
Not associated HPO term(s)
- Intellectual disability [HPO term]
ORDO concept(s)
- Congenital pulmonary lymphangiectasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Pulmonary Lymphangiectasia [NCIt concept]
- Congenital pulmonary lymphangiectasia [ORDO Disease]
- Congenital pulmonary lymphangiectasis (disorder) [SNOMED CT concept]
- Lymphangiectasia, pulmonary, congenital [MeSH concept]
- Pulmonary lymphangiectasia, congenital [HPO term]
- congenital pulmonary lymphangiectasis [SNOMED Notion]
- lymphangiectasia, pulmonary, congenital [MeSH Supplementary Concept]

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