Lung agenesis, congenital heart defects, and thumb anomalies syndrome

Preferred Label : Lung agenesis, congenital heart defects, and thumb anomalies syndrome;

Symbol : LACHT;

CISMeF acronym : LACHT;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mardini-nyhan association;

Description : The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).;

Inheritance : Autosomal recessive;

Prefixed ID : %601612;

Details

Origin ID

601612;

UMLS CUI

C3275954;

Currated CISMeF NLP mapping
- Lung agenesis with heart defect and thumb anomaly syndrome (disorder) [SNOMED CT concept]
- Lung agenesis-heart defect-thumb anomalies syndrome [ORDO Disease]
- Manouvrier syndrome [MeSH concept]
- manouvrier syndrome [MeSH Supplementary Concept]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral lung agenesis [HPO term]
- Coarctation of aorta [HPO term]
- Congenital onset [HPO term]
- Neonatal death [HPO term]
- Patent ductus arteriosus [HPO term]
- Respiratory insufficiency [HPO term]
- Tracheal atresia [HPO term]
ORDO concept(s)
- Lung agenesis-heart defect-thumb anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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