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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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cold intolerance #9979

Closed carolina-f closed 4 months ago

carolina-f commented 1 year ago

Preferred term label:

Synonyms

Definition (free text, please give PubMed ID) Cold intolerance is an abnormal sensitivity to a cold environment or cold temperatures

PMID: 9571469 There are four types of symptoms on exposure to cold in the condition known as cold intolerance: pain/discomfort, stiffness, altered sensibility and colour change. They may occur in isolation or in any combination. Symptoms were present in at least 64% of 200 patients 24 months after hand injury. Pain was found to be the most troublesome symptom. Colour change in the digits was regarded by patients as the least troublesome symptom. Symptoms may begin immediately after injury, but are more likely to develop with the first onset of cold weather if there is a lag period between injury and onset. Pre-existing cold related symptoms are uniformly made worse by hand injury. A definition of the condition has been proposed and it has been suggested that this collection of symptoms be known as "Trauma Induced Cold Associated Symptoms".

PMID: 28336049 Clinical manifestations of hypothyroidism range from life threatening to no signs or symptoms. The most common symptoms in adults are fatigue, lethargy, cold intolerance, weight gain, constipation, change in voice, and dry skin, but clinical presentation can differ with age and sex, among other factors

PMID: 20301789 Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-onset pyramidal signs, extrapyramidal findings (dystonia, choreoathetosis, paroxysmal movement disorder, hypokinesia, masked facies), and seizures, often with drug resistance. Additional findings can include dysthyroidism (manifest as poor weight gain, reduced muscle mass, and variable cold intolerance, sweating, elevated heart rate, and irritability) and pathognomonic thyroid test results.

Parent term (use hpo.jax.org/app)

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)

ORPHA:226298 Central congenital hypothyroidism

ORPHA:442 Congenital hypothyroidism

ORPHA:59 Allan-Herndon-Dudley syndrome

Your nano-attribution (ORCID) 0009-0005-6714-5727

pnrobinson commented 4 months ago

@carolina-f Adding new term: