Lymphedema, cardiac septal defects, and characteristic facies

Preferred Label : Lymphedema, cardiac septal defects, and characteristic facies;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Irons-bianchi syndrome; Lymphedema, atrial septal defect, and characteristic facies;

Inheritance : Autosomal recessive;

Prefixed ID : %601927;

Details

Origin ID

601927;

UMLS CUI

C2677167;

Currated CISMeF NLP mapping
- Lymphedema-atrial septal defects-facial changes syndrome [ORDO Disease]
- lymphedema, cardiac septal defects, and characteristic facies [MeSH concept]
- lymphedema, cardiac septal defects, and characteristic facies [MeSH Supplementary Concept]
HPO term(s)
- Atrial flutter [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Epicanthus [HPO term]
- Flattened nasal bridge [HPO term]
- High forehead [HPO term]
- Hydrocele testis [HPO term]
- Hydrops fetalis [HPO term]
- Hypoplastic toenails [HPO term]
- Lymphedema [HPO term]
- Oligohydramnios [HPO term]
- Omphalocele [HPO term]
- Overriding aorta [HPO term]
- Patent ductus arteriosus [HPO term]
- Prominent forehead [HPO term]
- Round face [HPO term]
- Severe hydrops fetalis [HPO term]
- Speech delay [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
- Vascular ring [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Lymphedema-atrial septal defects-facial changes syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lymphedema, atrial septal defect, facial changes syndrome (disorder) [SNOMED CT concept]
- Lymphedema-atrial septal defects-facial changes syndrome [ORDO Disease]
- lymphedema, cardiac septal defects, and characteristic facies [MeSH Supplementary Concept]
- lymphedema, cardiac septal defects, and characteristic facies [MeSH concept]

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