FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

260379002: Impaired (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
387919014 Impaired en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
652129014 Impaired (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5787551000005115 nedsat da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Impaired Is a Degree findings true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Dementia due to systemic lupus erythematosus Has interpretation True Impaired Inferred relationship Some 1
Dementia due to subacute sclerosing panencephalitis Has interpretation True Impaired Inferred relationship Some 1
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. Has interpretation True Impaired Inferred relationship Some 2
A rare genetic neurological disorder characterized by the association of congenital spastic paraplegia with global developmental delay and intellectual disability, ophthalmologic abnormalities (including nystagmus, reduced visual acuity, or hypermetropia), and obesity. Additional manifestations are brachy plagiocephaly and dysmorphic facial features. Brain imaging may show dilated ventricles, abnormal myelination, and mild generalized atrophy. Homozygous loss-of-function variants of KIDINS220 associated with a fetal lethal phenotype with ventriculomegaly and limb contractures have been reported. Has interpretation True Impaired Inferred relationship Some 3
Dementia due to kuru Has interpretation True Impaired Inferred relationship Some 1
Dementia due to hemorrhagic cerebral infarction due to hypertension (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to iatrogenic Creutzfeldt-Jakob disease (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to cerebral amyloid angiopathy (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to metastatic malignant neoplasm to brain (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to Lyme disease (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to leukodystrophy Has interpretation True Impaired Inferred relationship Some 1
Dementia due to fatal familial insomnia (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to genetic disease (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to familial Creutzfeldt-Jakob disease (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to cerebral vasculitis (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to hepatic failure Has interpretation True Impaired Inferred relationship Some 1
Dementia due to hypercalcemia (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to Gerstmann Straussler Scheinker syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to fragile X syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to Hashimoto encephalopathy (disorder) Has interpretation True Impaired Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Has interpretation True Impaired Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Has interpretation True Impaired Inferred relationship Some 4
A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia. Has interpretation True Impaired Inferred relationship Some 1
A rare genetic syndromic intellectual disability characterized by infantile or childhood onset of mild to profound developmental delay and intellectual disability in all affected individuals, as well as variable occurrence of epilepsy, autism spectrum disorder / behavioral issues, microcephaly, muscle tone abnormalities such as hypotonia and spasticity, dystonic, dyskinetic, or choreiform movement disorder, and cortical visual impairment. Brain MRI may reveal abnormal cortical development, hypoplastic corpus callosum, enlarged/dysplastic basal ganglia, and hippocampal dysplasia. Has interpretation True Impaired Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. Has interpretation True Impaired Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, postnatal microcephaly, intellectual disability, ataxia, sensorineural hearing loss, and exocrine pancreatic insufficiency. More variable manifestations include hypotonia, growth retardation, peripheral demyelinating neuropathy, dysmorphic facial features, and additional endocrine abnormalities. Brain imaging may show progressive cerebellar atrophy in some patients. Has interpretation True Impaired Inferred relationship Some 6
Frontal variant non-amnestic Alzheimer disease (disorder) Has interpretation True Impaired Inferred relationship Some 2
Logopenic non-amnestic Alzheimer disease (disorder) Has interpretation True Impaired Inferred relationship Some 2
Renal tubular necrosis following ectopic pregnancy (disorder) Has interpretation True Impaired Inferred relationship Some 2
Renal tubular necrosis following molar pregnancy (disorder) Has interpretation True Impaired Inferred relationship Some 2
Acute renal failure following ectopic pregnancy (disorder) Has interpretation True Impaired Inferred relationship Some 2
Acute renal failure following molar pregnancy (disorder) Has interpretation True Impaired Inferred relationship Some 2
A rare cardiac condition characterized by acute severe right ventricular failure with subsequent hemodynamic instability following a cardiac surgical procedure. Predisposing factors include suboptimal myocardial protection during surgery, long cardiopulmonary bypass time, right ventricular myocardial ischemia or infarction, atrial arrhythmias, reperfusion lung injury with secondary pulmonary hypertension, post-operative pulmonary micro- or macro-embolism, and pre-existing pulmonary vascular disease, among others. Has interpretation True Impaired Inferred relationship Some 1
Renal failure due to and following incomplete miscarriage Has interpretation True Impaired Inferred relationship Some 5
Quadrantanopia Has interpretation True Impaired Inferred relationship Some 2
Binasal heteronymous quadrantanopia (finding) Has interpretation True Impaired Inferred relationship Some 2
Bitemporal heteronymous quadrantanopia (finding) Has interpretation True Impaired Inferred relationship Some 2
Homonymous quadrant anopia Has interpretation True Impaired Inferred relationship Some 2
Left homonymous inferior quadrantanopia Has interpretation True Impaired Inferred relationship Some 2
Right homonymous superior quadrantanopia (finding) Has interpretation True Impaired Inferred relationship Some 2
Left homonymous superior quadrantanopia Has interpretation True Impaired Inferred relationship Some 2
Right homonymous inferior quadrantanopia Has interpretation True Impaired Inferred relationship Some 2
Quadrantanopia of left eye (finding) Has interpretation True Impaired Inferred relationship Some 2
Quadrantanopia of right eye (finding) Has interpretation True Impaired Inferred relationship Some 2
Peripheral visual field defect of bilateral eyes (finding) Has interpretation True Impaired Inferred relationship Some 1
Peripheral visual field defect of left eye (finding) Has interpretation True Impaired Inferred relationship Some 1
Peripheral visual field defect of right eye (finding) Has interpretation True Impaired Inferred relationship Some 1
Recurrent stress incontinence (finding) Has interpretation True Impaired Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. Has interpretation True Impaired Inferred relationship Some 3
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, moderate to severe intellectual disability, dysmorphic features including craniosynostosis, micro-/retrognathia, cleft palate, and brachydactyly, and short stature. Seizures, skeletal anomalies (such as arthrogryposis, gracile bones, and pathological fractures), and renal abnormalities have also been described. Cerebral MRI may show periventricular white matter changes and ventriculomegaly. Has interpretation True Impaired Inferred relationship Some 4
A rare genetic hemolytic uremic syndrome (HUS) characterized by infantile onset of relapsing episodes of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury. The episodes are often preceded by viral infections. Affected individuals typically present persistent hypertension, hematuria, and proteinuria (sometimes in the nephrotic range) and develop chronic kidney disease with age. Has interpretation True Impaired Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. Has interpretation True Impaired Inferred relationship Some 5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding, and patent ductus arteriosus. Dysmorphic facial features include hypertelorism, prominent eyes, depressed nasal bridge, and short upturned nose. Has interpretation True Impaired Inferred relationship Some 6
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Has interpretation True Impaired Inferred relationship Some 3
A rare genetic syndrome with a central nervous system malformation as a major feature, characterized by cortical malformations including posterior predominant lissencephaly and diffuse pachygyria, as well as midline crossing defects, thin corpus callosum, dysplastic hippocampi, narrowing of the brainstem with small pons and midbrain, widening of the medulla, and small cerebellum. Clinically, patients present global developmental delay, severe intellectual disability with poor or absent speech, axial hypotonia, and early-onset seizures, among others. Has interpretation True Impaired Inferred relationship Some 4
A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume. Has interpretation True Impaired Inferred relationship Some 2
A rare genetic disorder of magnesium transport characterized by infantile onset of generalized seizures and severe hypomagnesemia due to massive renal magnesium wasting. Seizures persist despite magnesium supplementation and are associated with significant global developmental delay and intellectual disability. Brain MRI may show reduced cerebral volume. Has interpretation True Impaired Inferred relationship Some 3
A rare type of hemolytic uremic syndrome (HUS) characterized by the triad of hemolytic anemia due to generalized thrombotic microangiopathy, thrombocytopenia, and acute kidney injury, and most commonly occurring after acute gastroenteritis due to Shiga toxin-producing enterohemorrhagic Escherichia coli or Shigella dysenteriae. Other infectious causes of HUS include Streptococcus pneumoniae, HIV, Mycoplasma pneumoniae, Histoplasmosis, and Coxsackie virus. Has interpretation True Impaired Inferred relationship Some 1
Visual field defect due to and following intracerebral haemorrhage Has interpretation True Impaired Inferred relationship Some 4
Urinary incontinence due to and following cerebrovascular accident (disorder) Has interpretation True Impaired Inferred relationship Some 1
Urinary incontinence due to and following cerebrovascular accident with intracranial hemorrhage (disorder) Has interpretation True Impaired Inferred relationship Some 1
Urinary incontinence due to and following embolic cerebrovascular accident (disorder) Has interpretation True Impaired Inferred relationship Some 1
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Has interpretation True Impaired Inferred relationship Some 1
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Has interpretation True Impaired Inferred relationship Some 2
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Has interpretation True Impaired Inferred relationship Some 7
A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Has interpretation True Impaired Inferred relationship Some 8
Frontotemporal dementia Has interpretation True Impaired Inferred relationship Some 3
Pick's disease with Pick bodies Has interpretation True Impaired Inferred relationship Some 3
Pick's disease with Pick cells and no Pick bodies Has interpretation True Impaired Inferred relationship Some 3
Frontal lobe degeneration with motor neurone disease Has interpretation True Impaired Inferred relationship Some 3
Semantic dementia Has interpretation True Impaired Inferred relationship Some 4
Frontotemporal dementia with gene located on 3p11 (disorder) Has interpretation True Impaired Inferred relationship Some 3
Right temporal atrophy variant frontotemporal dementia (disorder) Has interpretation True Impaired Inferred relationship Some 1
Behavioral variant of frontotemporal dementia (bv-FTD) is a form of frontotemporal dementia, characterized by progressive behavioral impairment and a decline in executive function with frontal lobe-predominant atrophy. Has interpretation True Impaired Inferred relationship Some 3
Altered behavior due to Pick's disease (disorder) Has interpretation True Impaired Inferred relationship Some 5
Frontotemporal dementia due to TARDBP mutation Has interpretation True Impaired Inferred relationship Some 4
Frontotemporal dementia due to VCP mutation (disorder) Has interpretation True Impaired Inferred relationship Some 4
Frontotemporal dementia due to C9orf72 mutation (disorder) Has interpretation True Impaired Inferred relationship Some 4
Frontotemporal dementia due to FUS mutation Has interpretation True Impaired Inferred relationship Some 4
Amyotrophic lateral sclerosis with frontotemporal dementia (disorder) Has interpretation True Impaired Inferred relationship Some 3
Hepatorenal syndrome with acute kidney injury (disorder) Has interpretation True Impaired Inferred relationship Some 1
A pathological impulse to write obscene letters or sexual arousal from writing obscenities. Has interpretation True Impaired Inferred relationship Some 1
Tricuspid valve stenosis with regurgitation due to neuroendocrine tumor (disorder) Has interpretation True Impaired Inferred relationship Some 2
Tricuspid valve regurgitation due to neuroendocrine tumor (disorder) Has interpretation True Impaired Inferred relationship Some 2
A condition in which kidney dysfunction or damage occurs due to either a partial or total blockage of the urine outflow from one or both kidneys. This issue stems from a blockage in the urinary tract beneath the kidneys, leading to waste build up within them. Such postrenal obstructions impede urine flow, resulting in urine backflow that damages the kidneys. Has interpretation True Impaired Inferred relationship Some 1
This is a result of structural damage within the kidney itself e.g. tubules, glomeruli, interstitium, and intrarenal blood vessels. This is in contrast to pre-renal and post-renal causes of acute kidney injury, which are due to factors outside the kidney itself. Has interpretation True Impaired Inferred relationship Some 1
Atypical haemolytic uraemic syndrome with complement gene abnormality Has interpretation True Impaired Inferred relationship Some 2
Atypical haemolytic uraemic syndrome with anti-factor H antibodies Has interpretation True Impaired Inferred relationship Some 2
Osteoporosis due to chronic kidney disease (disorder) Has interpretation True Impaired Inferred relationship Some 5
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Has interpretation True Impaired Inferred relationship Some 5
A rare genetic neurometabolic disease with characteristics of prenatal and postnatal growth retardation, hypotonia, failure to thrive, large and late-closing fontanel, development delay, cutis laxa, joint laxity, progeroid appearance and dysmorphic facial features. In addition, corneal opacities, cataracts, myopia, seizures, hyperreflexia and athetoid movements have also been associated. Has interpretation True Impaired Inferred relationship Some 6
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Has interpretation True Impaired Inferred relationship Some 5
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Has interpretation True Impaired Inferred relationship Some 6
Cystic fibrosis due to heterozygous deltaF508 mutation Has interpretation True Impaired Inferred relationship Some 1
Cystic fibrosis due to homozygous deltaF508 mutation Has interpretation True Impaired Inferred relationship Some 1
Acute exacerbation of chronic heart failure Has interpretation True Impaired Inferred relationship Some 1
Nasal step visual field defect of right eye (finding) Has interpretation True Impaired Inferred relationship Some 1
Nasal step visual field defect of left eye (finding) Has interpretation True Impaired Inferred relationship Some 1
Nasal step visual field defect of bilateral eyes (finding) Has interpretation True Impaired Inferred relationship Some 1
Adipsic arginine vasopressin-related polyuria (disorder) Has interpretation True Impaired Inferred relationship Some 1
A rare genetic syndrome with characteristics of developmental delay and mild to moderate intellectual disability. Verbal language acquisition is usually delayed, with restricted language. The congenital heart defects are present in 41% of individuals, the most frequent being interatrial communication and interventricular communication. The syndrome is caused by heterozygous, usually de novo pathogenic or likely pathogenic variants in the CDK13 gene (7p14.1), coding for a protein which regulates transcription. Transmission is autosomal dominant however, in most situations, the pathogenic variants arise de novo, and thus, the risk of sibling recurrence is low. Has interpretation True Impaired Inferred relationship Some 2

Start Previous Page 27 of 28 End

This concept is not in any reference sets

Back to Start