Vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency

Preferred Label : Vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 608406;

Details

Origin ID

608406;

UMLS CUI

C1842082;

CISMeF manual mappings
- Braddock syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Braddock syndrome [ORDO Disease]
- Vater-Like defects with pulmonary hypertension, laryngeal webs, and growth deficiency [MeSH Supplementary Concept]
- Vater-Like defects with pulmonary hypertension, laryngeal webs, and growth deficiency [MeSH concept]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormal rib cage morphology [HPO term]
- Abnormality of the larynx [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Epicanthus [HPO term]
- Hemivertebrae [HPO term]
- Hypertelorism [HPO term]
- Hypertension [HPO term]
- Intrauterine growth retardation [HPO term]
- Laryngeal web [HPO term]
- Patent ductus arteriosus [HPO term]
- Pectus excavatum [HPO term]
- Posterior rib fusion [HPO term]
- Posteriorly rotated ears [HPO term]
- Preaxial hand polydactyly [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Short stature [HPO term]
- Unilateral renal agenesis [HPO term]
- Ventricular septal defect [HPO term]
ORDO concept(s)
- Braddock syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Braddock syndrome [ORDO Disease]
- Vater-Like defects with pulmonary hypertension, laryngeal webs, and growth deficiency [MeSH Supplementary Concept]
- Vater-Like defects with pulmonary hypertension, laryngeal webs, and growth deficiency [MeSH concept]

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