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281302008: Above reference range (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
419285019 Above reference range en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
674822016 Above reference range (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Above reference range Is a Reference range comments false Inferred relationship Some
Above reference range Is a Outside reference range (qualifier value) true Inferred relationship Some
Above reference range Is a Increased true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Thyroglobulin synthesis defect Has interpretation False Above reference range Inferred relationship Some 3
Iodotyrosyl coupling defect Has interpretation False Above reference range Inferred relationship Some 3
Iodotyrosine deiodination defect Has interpretation False Above reference range Inferred relationship Some 3
Dyshormonogenetic goiter AND iodide leak Has interpretation False Above reference range Inferred relationship Some 1
Familial dyshormonogenetic goitre Has interpretation False Above reference range Inferred relationship Some 1
Hypothyroidism due to iodide trapping defect Has interpretation False Above reference range Inferred relationship Some 3
Hypothyroidism due to iodide organification defect Has interpretation False Above reference range Inferred relationship Some 3
Hyperosmolar coma due to drug induced diabetes mellitus (disorder) Has interpretation True Above reference range Inferred relationship Some 1
6q16 microdeletion syndrome Has interpretation True Above reference range Inferred relationship Some 2
Bowel-associated dermatosis-arthritis syndrome Has interpretation False Above reference range Inferred relationship Some 2
Bowel-bypass syndrome Has interpretation False Above reference range Inferred relationship Some 3
Glomerular filtration rate above reference range Has interpretation True Above reference range Inferred relationship Some 1
Carcinoid heart disease Has interpretation True Above reference range Inferred relationship Some 2
Heat stroke Has interpretation True Above reference range Inferred relationship Some 1
Exertional heat stroke (disorder) Has interpretation True Above reference range Inferred relationship Some 1
Heat exhaustion Has interpretation True Above reference range Inferred relationship Some 1
Heat exhaustion due to salt depletion Has interpretation True Above reference range Inferred relationship Some 3
Heat exhaustion co-occurrent and due to anhidrosis (disorder) Has interpretation True Above reference range Inferred relationship Some 1
Sunstroke Has interpretation True Above reference range Inferred relationship Some 2
Base excess Has interpretation True Above reference range Inferred relationship Some 1
Occipitofrontal circumference greater than two standard deviations above the mean for a given age, sex or gestation (i.e. equal to or greater than the 97th percentile). Has interpretation True Above reference range Inferred relationship Some 1
Congenital macrocephaly (disorder) Has interpretation True Above reference range Inferred relationship Some 2
Bannayan syndrome Has interpretation True Above reference range Inferred relationship Some 3
A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe intellectual deficit, Dandy-Walker malformation, macrocephaly, severe myopia, brachytelephalangy with short and broad fingernails, and dysmorphic facial features (such as thick eyebrows, synophrys, epicanthal folds, low-set ears, short philtrum, and high-arched palate). Additional reported manifestations include seizures and skeletal and genital anomalies, among others. There have been no further descriptions in the literature since 1989. Has interpretation True Above reference range Inferred relationship Some 8
Intellectual disability-seizures-macrocephaly-obesity syndrome is a rare syndromic obesity due to complex chromosomal rearrangement characterized by development delay and intellectual disability, childhood-onset obesity, seizures, poor coordination and broad-based gait, macrocephaly and mild dysmorphic features (such as narrow palpebral fissures, malar hypoplasia and thin upper lips), eczema, ocular abnormalities and a social personality. Has interpretation True Above reference range Inferred relationship Some 6
Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegaly. Has interpretation True Above reference range Inferred relationship Some 3
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive. Has interpretation True Above reference range Inferred relationship Some 5
Birth head circumference equal to or greater than 97th centile (finding) Has interpretation True Above reference range Inferred relationship Some 2
Child head circumference equal to or greater than 97th centile (finding) Has interpretation True Above reference range Inferred relationship Some 2
Child HC = 98th centile Has interpretation True Above reference range Inferred relationship Some 2
Child head circumference 98.1st-99.6th centile (finding) Has interpretation True Above reference range Inferred relationship Some 2
Child HC >99.6th centile Has interpretation True Above reference range Inferred relationship Some 2
24 hour urine volume excessive Has interpretation True Above reference range Inferred relationship Some 1
Hereditary persistence of alpha-fetoprotein is a benign genetic condition characterized by persistence of high alpha-fetoprotein (AFP) levels throughout life, with no associated clinical disability and thus no need for specific therapy. Has interpretation True Above reference range Inferred relationship Some 1
A rare, syndromic intellectual disability characterized by macrocephaly, short stature, intellectual disability, variable degree of spastic paraplegia, central nervous system malformations (hydrocephalus, Dandy-Walker malformation), and dysmorphic features, such as high and broad forehead, midface hypoplasia, and small and broad hands and feet. There have been no further descriptions in the literature since 1993. Has interpretation True Above reference range Inferred relationship Some 2
MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype. Has interpretation True Above reference range Inferred relationship Some 4
A rare, genetic, neurological disease characterized by association of macrocephaly, dysmorphic facial features and psychomotor delay leading to intellectual disability and autism spectrum disorder. Facial dysmorphism may include frontal bossing, hypertelorism, midface hypoplasia, depressed nasal bridge, short nose, and long philtrum. Has interpretation True Above reference range Inferred relationship Some 3
A rare multisystemic genetic disorder characterized by characteristic facial features with macrocephaly, overgrowth in infancy, intellectual disability and behavioral problems including anxieties and aggressiveness. Has interpretation True Above reference range Inferred relationship Some 3
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992. Has interpretation True Above reference range Inferred relationship Some 6
A rare overgrowth syndrome characterized by tall stature, learning difficulties and facial dysmorphism. Has interpretation True Above reference range Inferred relationship Some 3
A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Has interpretation True Above reference range Inferred relationship Some 4
Head circumference is less than two standard deviations above the mean, but appears disproportionately large when other factors such as stature are considered. Has interpretation True Above reference range Inferred relationship Some 1
A rare X-linked syndromic intellectual disability characterized by variable intellectual deficit, macrocephaly, short stature, and facial dysmorphism (such as prominent forehead, prominent supraorbital ridges, hypertelorism, downslanting palpebral fissures, broad nasal tip, anteverted nostrils, thick lower lip, and localized microdontia). Additional reported features include seizures, post-pubertal macroorchidism, obesity, and short, broad hands with tapered fingers. Has interpretation True Above reference range Inferred relationship Some 3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Has interpretation True Above reference range Inferred relationship Some 2
An X-linked syndromic intellectual disability characterized by intellectual disability, macrocephaly, macroorchidism, prominent eyebrows and jaws and abnormal ears. Males are predominantly affected, some females show lower cognitive abilities. Has interpretation True Above reference range Inferred relationship Some 2
Vomit pH more alkaline than reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Idiopathic hyperphosphatasemia Has interpretation True Above reference range Inferred relationship Some 1
Hyperphosphatemia due to chronic kidney disease (disorder) Has interpretation True Above reference range Inferred relationship Some 1
Hypercalcemia due to chronic kidney disease (disorder) Has interpretation True Above reference range Inferred relationship Some 1
Excessive weight gain measured during pregnancy (finding) Has interpretation False Above reference range Inferred relationship Some 1
Faecal fat excessive Has interpretation True Above reference range Inferred relationship Some 1
Feces pH more alkaline than reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Serum albumin above reference range Has interpretation True Above reference range Inferred relationship Some 1
Serum amino acid above reference range Has interpretation True Above reference range Inferred relationship Some 1
Serum bicarbonate above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Serum androstenedione above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Serum creatine kinase above reference range Has interpretation True Above reference range Inferred relationship Some 1
Plasma creatine kinase above reference range Has interpretation True Above reference range Inferred relationship Some 1
A rare neurologic biological anomaly characterized by persistent elevation of the serum creatine phosphokinase (CK) without any clinical, neurophysical or histopathological evidence of neuromuscular disease using the available laboratory procedures. It is usually an incidental finding, diagnosed after exclusion of other possible causes of elevated CK levels. Has interpretation True Above reference range Inferred relationship Some 1
Serum inorganic phosphate above reference range Has interpretation True Above reference range Inferred relationship Some 1
Serum progesterone above reference range Has interpretation True Above reference range Inferred relationship Some 1
Serum sodium above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Serum testosterone above reference range Has interpretation True Above reference range Inferred relationship Some 1
Serum thyroid stimulating hormone above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Serum vitamin B12 above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Proportionate bilateral long legs Has interpretation True Above reference range Inferred relationship Some 1
Chronic gout caused by drug Has interpretation False Above reference range Inferred relationship Some 3
Chronic gout caused by lead (disorder) Has interpretation False Above reference range Inferred relationship Some 3
Monoarticular chronic primary gouty arthritis Has interpretation False Above reference range Inferred relationship Some 4
Monoarticular acute primary gout Has interpretation False Above reference range Inferred relationship Some 1
Monoarticular chronic gout caused by lead Has interpretation False Above reference range Inferred relationship Some 4
Monoarticular acute gout caused by lead Has interpretation False Above reference range Inferred relationship Some 1
Acute gout caused by lead (disorder) Has interpretation False Above reference range Inferred relationship Some 1
Acute drug-induced gout Has interpretation False Above reference range Inferred relationship Some 1
Polycythemia due to HIF2A mutation Has interpretation True Above reference range Inferred relationship Some 1
Polyarticular chronic primary gouty arthritis Has interpretation False Above reference range Inferred relationship Some 3
Serum zinc above reference range Has interpretation True Above reference range Inferred relationship Some 1
Thrombin time above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Primary familial polycythemia due to erythropoietin receptor mutation Has interpretation True Above reference range Inferred relationship Some 2
Polycythemia due to PHD2 mutation Has interpretation True Above reference range Inferred relationship Some 1
Relative polycythemia due to chronic loss of plasma volume Has interpretation True Above reference range Inferred relationship Some 2
Relative polycythaemia due to acute loss of plasma volume Has interpretation True Above reference range Inferred relationship Some 2
Polyarticular acute primary gout Has interpretation False Above reference range Inferred relationship Some 1
Polyarticular chronic gout caused by lead Has interpretation False Above reference range Inferred relationship Some 4
Polyarticular acute gout caused by lead (disorder) Has interpretation False Above reference range Inferred relationship Some 4
Increased fibrinolysis Has interpretation True Above reference range Inferred relationship Some 1
Sputum: eosinophilia Has interpretation True Above reference range Inferred relationship Some 2
Relative lymphocytosis Has interpretation True Above reference range Inferred relationship Some 1
Monocytosis Has interpretation True Above reference range Inferred relationship Some 1
Reactive monocytosis Has interpretation True Above reference range Inferred relationship Some 1
Monocytic leukemoid reaction Has interpretation True Above reference range Inferred relationship Some 1
Chronic idiopathic monocytosis Has interpretation True Above reference range Inferred relationship Some 1
Hyperproinsulinemia Has interpretation True Above reference range Inferred relationship Some 1
Neutrophilic eccrine hidradenitis Has interpretation False Above reference range Inferred relationship Some 4
Neutrophilic eccrine hidradenitis due to cytotoxic therapy (disorder) Has interpretation True Above reference range Inferred relationship Some 1
Increased blood oxygen pressure Has interpretation True Above reference range Inferred relationship Some 1
Granulocyte count above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Abnormally increased organ weight (finding) Has interpretation True Above reference range Inferred relationship Some 1
Rheumatoid neutrophilic dermatitis Has interpretation False Above reference range Inferred relationship Some 4
Alkaline phosphatase liver isoenzyme above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1
Intestinal alkaline phosphatase above reference range (finding) Has interpretation True Above reference range Inferred relationship Some 1

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