choreoathetosis, hypothyroidism, and neonatal respiratory distress

Preferred Label : choreoathetosis, hypothyroidism, and neonatal respiratory distress;

MeSH note : associated with mutation of thyroid transcription factor 1 gene NKX2;

CISMeF synonym : choreoathetosis and congenital hypothyroidism;

MeSH synonym : Brain-Lung-Thyroid syndrome;

Details

Origin ID

C567034;

UMLS CUI

C1970269;

Currated CISMeF NLP mapping
- Brain-lung-thyroid syndrome [ORDO Disease]
- Brain-lung-thyroid syndrome [ICD-11 Subcategory]
- Choreoathetosis - hypothyroidism - neonatal respiratory distress [ICD-11 More detail]
- Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction [OMIM Phenotype]
- Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) [SNOMED CT concept]
- Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress [NCIt concept]
- brain thyroid lung syndrome [Disease (Nov.)]
- choreoathetosis, hypothyroidism and neonatal respiratory distress [Disease (Nov.)]
MeSH term(s) associated for indexing
- athetosis [MeSH Descriptor]
- chorea [MeSH Descriptor]
- congenital hypothyroidism [MeSH Descriptor]
- respiratory distress syndrome, newborn [MeSH Descriptor]
Record concept(s)
- choreoathetosis and congenital hypothyroidism [MeSH concept]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brain-lung-thyroid syndrome [ORDO Disease]
- Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction [OMIM Phenotype]
- Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder) [SNOMED CT concept]
- Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress [NCIt concept]
- choreoathetosis, hypothyroidism and neonatal respiratory distress [Disease (Nov.)]

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