Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress

Preferred Label : Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress;

NCIt synonyms : CAHTP; Brain-Lung-Thyroid Syndrome;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the NKX2-1 gene, encoding homeobox protein Nkx-2.1. It is characterized by choreoathetosis, congenital hypothyroidism, and pulmonary dysfunction.;

Details

Origin ID

C202546;

UMLS CUI

C1970269;

Currated CISMeF NLP mapping
- Brain-lung-thyroid syndrome [ICD-11 Subcategory]
- Brain-lung-thyroid syndrome [ORDO Disease]
- 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]
- brain thyroid lung syndrome [Disease (Nov.)]
- choreoathetosis, hypothyroidism and neonatal respiratory distress [Disease (Nov.)]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH concept]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [Disease (Nov.)]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH Supplementary Concept]
- choreoathetosis, hypothyroidism, and neonatal respiratory distress [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NKX2-1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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