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September 15, 2023 18:56
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First completion for example_pompt_rav_cot_precision_v1.txt
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`Pulmonary arterial hypertension associated with portal hypertension` is a condition describing a subset of patients with pulmonary arterial hypertension (PAH) specifically resulting from portal hypertension. Given its specificity, it is likely that patients presenting this condition would carry similar clinical characteristics. The term is therefore precise, but not to the degree of `high precision` terms which are often identified by more extensive molecular, genetic, or physiological markers, but it is not general enough to be deemed `low precision`. Therefore, I would categorize it as `medium precision`. | |
`Schneckenbecken dysplasia` refers to a prenatally lethal spondylodysplastic dysplasia, which is a rare, specific, and homogenous group of patients. Its high degree of specificity in terms of patient population and ontological uniqueness suggests it would fall into the `high precision` category. | |
`Vestibular disease` refers to a range of pathological processes in the vestibular labyrinth, and affects patients with different clinical characteristics leading to instability and risk of falls. Its broader nature and encompassing of multiple subconditions suggest a degree of heterogeneity that would classify it as a `low precision` term. | |
`Intellectual disability, autosomal dominant 45`, is a very specific term, referring to a single disease with an identified genetic basis, and likely affects a homogeneous group of patients. As a result, it should belong to the `high precision` category. | |
`Lysosomal disease` is a general term that encompasses numerous genetically heterogeneous lysosomal storage diseases, which affect different populations and present differently. Thus, this term would be classified as `low precision`. | |
`Gastric Choriocarcinoma` is a specific subtype of malignant germ cell tumor which arises from stomach, marked by certain cellular features and is often associated with lymph node and hematogenous metastases. Because the description makes clear that it refers to a very narrowly defined group of patients, the term falls under the category of `high precision`. | |
`Familial juvenile hyperuricemic nephropathy` is a specific familial disorder impacting the kidneys. Despite the lack of definition, as the disease demonstrates heritability which suggests a consistent underlying cause or etiology, this term can be categorised as `medium precision`. | |
`Pyridoxal phosphate-responsive seizures` is a neonatal epileptic encephalopathy disorder notable for its emergence within hours of birth and it being responsive specifically to pyridoxal phosphate. Given that this term describes a distinct subset of seizures and patients suffering from them, it serves as a `high precision` term. | |
`Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome` is a complex term, but it still indicates a very specific genetic syndrome characterized by cerebellar ataxia, epilepsy, and intellectual disability. Its genetic nature indicates a high degree of specificity. Therefore, it should be classified as `high precision`. | |
`Hereditary cerebral hemorrhage with amyloidosis` describes a familial syndrome causing cerebral hemorrhage due to amyloid deposition in cerebral blood vessels. The overt genetic component and clear physiological symptoms suggest the term is a `medium precision` term. | |
`Autosomal dominant rhegmatogenous retinal detachment` is a specific form of retinal detachment with a clear genetic background. That being the case, it should be classified as `high precision`. | |
`Alpha-mannosidosis` is a genetically based lysosomal storage disorder with a variety of associated symptoms. Given this specificity, it falls into the `high precision` category. | |
`Genetic dermis elastic tissue disorder` is reasonably broad for a genetic disorder, and likely incorporates a range of specific conditions under its umbrella. This would place it into the `low precision` category. | |
`Benign neoplasm of pancreas` lacks specificity, as it covers a wide range of benign tumors occurring in the pancreas. This broad nature suggests it should be categorized as `low precision`. | |
`Neuroectodermal-endocrine syndrome` is described by a combination of endocrine and neuroectodermal anomalies, including intellectual deficit and characteristic facial appearance, likely affecting a specific and homogeneous group of patients. Due to this, it is categorized as a `medium precision` term. | |
`Congenital lactase deficiency` refers to a very specific congenital disorder resulting in severe gastrointestinal disorder in newborns, primarily reported in Finland. This quite specific description categorizes this term as `high precision`. | |
`Piedra` comprises two separate fungal hair shaft infections resulting in similar outcomes, but between which there are key differences. This term covers two distinct disease entities and is therefore classified as `low precision`. | |
`Type 1 interferonopathy` is a term lacking a clear definition, however, given its implied link to dysregulation of type 1 interferon responses, this term could essentially group a number of different conditions caused by such pathologies. Therefore, it should be categorized as `low precision`. | |
`Craniosynostosis-cataract syndrome` also lacks a definition, but the mention of the two specific conditions it does in its label suggests the syndrome is associated with a highly specific group of patients who have both craniosynostosis and cataracts. As a result, this is categorized as `high precision`. | |
`Segmental progressive overgrowth syndrome with fibroadipose hyperplasia` appears to describe a very specific syndrome with overgrowth affecting the adipose and fibrous tissues. Therefore, this term will fall under the `medium precision` category. | |
`Hemometra` is a specific condition where the uterus is blood-filled. This is a specific clinical presentation indicating a homogenous patient population, hence, I would categorize it as `high precision`. | |
`Progressive supranuclear palsy` is a specific, rare, neurodegenerative disease characterized by specific neurological impairments. Based on its specific characteristics, I would categorize it as `medium precision`. | |
`Papillary epithelial neoplasm` is a pathological term which covers any benign or malignancy characterized by the presence of tissue projections reminiscent of nipple-like structures. Such a descriptor doesn’t necessarily limit the term to any particular tissue or organ structure or to a specific group of patients. Therefore, it should be categorized as `low precision`. | |
`Congenital heart disease` is a broad term that covers a range of conditions that affect the heart and which are present at birth. Due to its wide ranging nature, it should be categorized as `low precision`. | |
`Complex Endometrial Hyperplasia` describes a specific condition characterized by excessive proliferation of endometrial cells that form complex epithelial structures. Given its specific clinical presentation, it should be categorized as `high precision`. | |
`Trisomy 4p` is a specific chromosomal anomaly, resulting in specified clinical outcomes. It refers to a specific and homogenous patient population and can therefore be categorized as `high precision`. | |
`Lymphedema, hereditary, iii` is a specific form of lymphatic dysplasia. The specificity of the genetic links to the condition and well defined clinical characteristics suggest it should be categorized as `high precision`. | |
`Infective arthritis` is a relatively broad term, as it describes inflammation of one or more joints caused by any infectious pathogen. Therefore, it should be categorized as `low precision`. | |
`Partial pancreatic agenesis` is a specific condition caused by the underdevelopment or absence of a portion of the pancreas. Therefore, the term should fall under the category of `high precision`. | |
`Occipital horn syndrome` describes a relatively specific syndrome, which is a mild form of Menkes disease. Therefore, it should be categorized as `medium precision`. | |
`Spermatogenic failure 28` is a specific term which refers to a certain condition of male infertility. Despite the lack of definition, the consideration of `28` may relate to a genetic or biochemical marker of the condition and therefore, it should be categorized under `high precision`. | |
`Intellectual developmental disorder with macrocephaly, seizures, and speech delay` is a specific neurodevelopmental disorder characterized by specific clinical manifestations. Therefore, it should be categorized under `high precision`. | |
`Autosomal recessive cutis laxa type 2, classic type` is a specific variant of the disease `cutis laxa` characterized by loose and sagging skin. Despite the lack of definition, its designation suggests it refers to a specific group of patients. Therefore, it should belong to the `high precision` category. | |
`Mononegavirales infectious disease` describes a class of diseases resulting from infection by Mononegavirales viruses, which is too general to be highly precise. Therefore, it should be categorized under `low precision`. | |
`White forelock with malformations` is a specific congenital anomalies syndrome characterized by poliosis and distinct facial features with congenital anomalies/malformations of multiple systems. Therefore, it should be categorized as `medium precision`. | |
`Craniofrontonasal dysplasia - Poland anomaly`, despite the lack of definition, the term combines two recognized conditions, suggesting a rare disorder encompassing symptoms of both conditions. Therefore, it should be categorized under `medium precision`. | |
`Lactose intolerance adult type` is a very specific condition refers to adults who develop an intolerance to lactose, with distinct physiological features. Therefore, it should be categorized under `high precision`. | |
`Macrodactyly of toes, unilateral`, despite the lack of definition, refers to an overgrowth of a toe, presenting in one foot only. Given the specificity of this morphological description, I would classify this term under `high precision`. | |
`Kimura disease` is a rare inflammatory disorder characterized by non-tender subcutaneous masses in the head and neck region and is associated with autoinflammatory disorders. Therefore, it should be categorized under `medium precision`. | |
`Small intestine cancer` is a broad term that covers a range of malignant neoplasms occurring in the small intestine. Given the broader nature of this term, I would classify it under `low precision`. | |
`Candidemia` is a specific type of candidiasis resulting from species of candida being present in the blood. Hence, it does denote a more specific patient population and presents similar clinical manifestations. Therefore, it should be categorized under `high precision`. | |
'46,XY disorder of sex development of gynecological interest', despite the lack of definition, the term implies a distinct subset of 46,XY disorders linked specifically to gynecological issues. Therefore, it should be categorized under `medium precision`. | |
`Familial hyperreninemic hypoaldosteronism type 1`, despite the lack of definition, is a specific familial disorder which suggests the involvement of genetic factors. Given the likely homogeneity of patients with the condition, the term should be classified as `medium precision`. | |
`Primary localized amyloidosis` describes a specific condition characterized by localized amyloid deposition, with a clear physiological origin. Therefore, it should be categorized under `high precision`. | |
'Familial meningioma' describes a specific condition in which meningioma is inherited, implying a genetic basis. Therefore, it should be categorized under `medium precision`. | |
'Microcephaly - cervical spine fusion anomalies', despite the lack of definition, the term combines two recognized conditions, suggesting a rare disorder encompassing symptoms of both conditions. Therefore, it should be categorized under `medium precision`. | |
`Macrodactyly of toes, unilateral`, despite the lack of definition, refers to an overgrowth of a toe, presenting in one foot only. Given the specificity of this morphological description, I would classify this term under `high precision`. | |
'Gallbladder neoplasm' covers a range of diseases affecting the gallbladder and is not sufficiently specific to identify a homogenous set of patients. Therefore, it should be classified as `low precision`. | |
`Thymus neoplasm` is a general term that includes any benign or malignant neoplasm affecting the thymus. Due to the broader nature of this term, I would classify it under `low precision`. | |
`Hypomyelination with brain stem and spinal cord involvement and leg spasticity`, despite the lack of definition, refers to a specific disease involving the myelin sheaths in certain parts of central nervous system and presenting with leg spasticity. These indications suggest the involvement of a homogenous set of patients. Therefore, it should be categorized under `medium precision`. | |
<END_OF_COT> | |
id|precision | |
EFO:0009197|medium | |
MONDO:0010013|high | |
EFO:0009691|low | |
MONDO:0030910|high | |
Orphanet:68366|low | |
EFO:1000269|high | |
MONDO:0000608|medium | |
MONDO:0012407|high | |
MONDO:0018446|high | |
Orphanet:85458|medium | |
MONDO:0016202|high | |
MONDO:0009561|high | |
Orphanet:228215|low | |
MONDO:0021470|low | |
MONDO:0017045|medium | |
MONDO:0009115|high | |
MONDO:0000253|low | |
MONDO:0018782|low | |
MONDO:0015468|high | |
MONDO:0017812|medium | |
EFO:1000962|high | |
MONDO:0019037|medium | |
MONDO:0021096|low | |
EFO:0005207|low | |
EFO:1000202|high | |
MONDO:0015767|high | |
EFO:0009153|high | |
MONDO:0042485|low | |
Orphanet:2805|high | |
MONDO:0010572|medium | |
MONDO:0054732|high | |
EFO:0010259|high | |
MONDO:0009054|high | |
EFO:0007376|low | |
MONDO:0010199|medium | |
Orphanet:1521|medium | |
EFO:1000063|high | |
MONDO:0017566|high | |
EFO:1000722|medium | |
MONDO:0000956|low | |
EFO:1001282|high | |
Orphanet:325632|medium | |
MONDO:0020489|medium | |
MONDO:0017817|high | |
MONDO:0011789|medium | |
Orphanet:2522|medium | |
MONDO:0014863|high | |
EFO:0004606|low | |
EFO:0002626|low | |
MONDO:0014115|medium |
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