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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
Corneal dystrophy-perceptive deafness (CDPD) or Harboyan syndrome is a degenerative corneal disorder characterized by the association of congenital hereditary endothelial dystrophy with progressive, postlingual sensorineural hearing loss. Has interpretation True Impaired Inferred relationship Some 3
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss. Has interpretation True Impaired Inferred relationship Some 3
A rare metabolic myopathy presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. Has interpretation True Impaired Inferred relationship Some 1
A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. Has interpretation True Impaired Inferred relationship Some 5
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994. Has interpretation True Impaired Inferred relationship Some 2
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Has interpretation True Impaired Inferred relationship Some 4
Bosley-Salih-Alorainy syndrome (BSAS) is characterised by variable horizontal gaze dysfunction, profound and bilateral sensorineural deafness associated commonly with severe inner ear maldevelopment, cerebrovascular anomalies (ranging from unilateral internal carotid artery hypoplasia to bilateral agenesis), cardiac malformation, developmental delay and occasionally autism. The syndrome is caused by homozygous mutations in the HOXA1 gene (7p15.2) and is transmitted in an autosomal recessive manner. The syndrome overlaps clinically and genetically with Athabaskan brain dysfunction syndrome (ABDS,). However unlike ABDS, BSAS does not manifest central hypoventilation. Has interpretation True Impaired Inferred relationship Some 3
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Has interpretation True Impaired Inferred relationship Some 5
An orofacial clefting syndrome that is characterized by a cleft palate, ocular coloboma, hypospadias, mixed conductive-sensorineural hearing loss, short stature, and radio-ulnar synostosis. Has interpretation True Impaired Inferred relationship Some 4
Cleft lip/palate-deafness-sacral lipoma syndrome is characterized by cleft lip/palate, profound sensorineural deafness, and a sacral lipoma. It has been described in two brothers of Chinese origin born to non-consanguineous parents. Additional findings included appendages on the heel and thigh, or anterior sacral meningocele and dislocated hip. The mode of inheritance is probably autosomal or X-linked recessive. Has interpretation True Impaired Inferred relationship Some 5
A rare X-linked syndromic intellectual disability characterized by congenital sensorineural hearing loss, varying degrees of intellectual disability, short stature, and dysmorphic facial features (such as telecanthus, epicanthic folds, broad nasal root, malar hypoplasia, low-set ears, dental anomalies, and micrognathia). Additional reported manifestations include microcephaly, renal and genitourinary abnormalities, widely spaced, hypoplastic nipples, and adult onset of progressive pancytopenia. Has interpretation True Impaired Inferred relationship Some 3
Cataract-deafness-hypogonadism syndrome is an extremely rare multiple congenital abnormality syndrome, described in only three brothers to date, that is characterized by the association of congenital cataract, sensorineural deafness, hypogonadism, mild intellectual deficit, hypertrichosis, and short stature. There have been no further descriptions in the literature since 1995. Has interpretation True Impaired Inferred relationship Some 4
A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases. Has interpretation True Impaired Inferred relationship Some 4
A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described. Has interpretation True Impaired Inferred relationship Some 4
Deafness-craniofacial syndrome is characterized by the association of congenital hearing loss and facial dysmorphism (facial asymmetry, a broad nasal root and small nasal alae). It has been described in two members (father and daughter) of one Jewish family. Temporal alopecia was also noted. Transmission appeared to be autosomal dominant. Has interpretation True Impaired Inferred relationship Some 3
Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features. Has interpretation True Impaired Inferred relationship Some 4
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia. Has interpretation True Impaired Inferred relationship Some 3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested. Has interpretation True Impaired Inferred relationship Some 5
Pili torti-deafness syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness. Has interpretation True Impaired Inferred relationship Some 4
X-linked sensorineural hearing loss Has interpretation True Impaired Inferred relationship Some 1
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterized by hypotonia, global developmental delay, neonatal onset of progressive pectus carinatum without other skeletal abnormalities, poor growth, sensorineural hearing loss, dysmorphic features and brain abnormalities such as cerebral atrophy, quadriventricular dilatation and thin corpus callosum posteriorly. Has interpretation True Impaired Inferred relationship Some 1
Acute kidney injury following administration of contrast media (disorder) Has interpretation False Impaired Inferred relationship Some 1
Postoperative urinary incontinence Has interpretation True Impaired Inferred relationship Some 1
A rare genetic cerebral small vessel disease characterized by subcortical ischemic events associated with cognitive decline and gait disturbance with an age of onset typically in the sixth or seventh decade of life. Imaging reveals white matter hyperintensities, status cribrosum, lacunar infarcts, and sometimes microbleeds. Extra-neurological manifestations are absent. Has interpretation True Impaired Inferred relationship Some 1
Dementia caused by manganese and/or manganese compound (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to thiamine deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to niacin deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 1
Dementia due to nutritional deficiency Has interpretation True Impaired Inferred relationship Some 1
Dementia due to cobalamin deficiency Has interpretation True Impaired Inferred relationship Some 1
Dementia due to vitamin E deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 1
Cognitive impairment due to lead toxicity (disorder) Has interpretation True Impaired Inferred relationship Some 1
A degenerative brain disease linked to a history of repetitive head impacts such as those experienced in contact and collision sports or combat military service. Has interpretation True Impaired Inferred relationship Some 2
A rare, neurodegenerative disease characterized by progressive dementia and ataxia, widespread cerebral amyloid angiopathy and parenchymal amyloid deposition. Two subtypes have been identified, ABri amyloidosis and ADan amyloidosis. Has interpretation True Impaired Inferred relationship Some 3
Impaired social interaction Has interpretation True Impaired Inferred relationship Some 2
A rare genetic neurological disorder characterized by hypotonia, delayed motor development, dyskinesia of the limbs, intellectual disability with impaired speech development, seizures, autistic features, stereotypic movements, and sleep disturbance. Onset of symptoms is in infancy. Bilateral abnormalities in the putamen on brain MRI have been reported in some patients. Has interpretation True Impaired Inferred relationship Some 4
Adynamic bone disease Has interpretation True Impaired Inferred relationship Some 5
sygdom som følge af svækket nyrefunktion Has interpretation False Impaired Inferred relationship Some 2
Phosphate-losing tubular disorders Has interpretation True Impaired Inferred relationship Some 2
Renal function impairment with growth failure Has interpretation True Impaired Inferred relationship Some 2
Renal acidaemia Has interpretation True Impaired Inferred relationship Some 2
Left ventricular failure with normal ejection fraction due to coronary artery disease Has interpretation True Impaired Inferred relationship Some 3
Left ventricular failure with normal ejection fraction due to cardiomyopathy (disorder) Has interpretation True Impaired Inferred relationship Some 3
Left ventricular failure with normal ejection fraction due to myocarditis Has interpretation True Impaired Inferred relationship Some 3
Left ventricular failure with normal ejection fraction due to valvular heart disease Has interpretation True Impaired Inferred relationship Some 3
Myocardial dysfunction with sepsis (disorder) Has interpretation True Impaired Inferred relationship Some 1
Myocardial dysfunction with sepsis (disorder) Has interpretation False Impaired Inferred relationship Some 4
Left ventricular failure with sepsis Has interpretation True Impaired Inferred relationship Some 3
Right ventricular failure with sepsis Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features. Has interpretation True Impaired Inferred relationship Some 5
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiac septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. Has interpretation True Impaired Inferred relationship Some 5
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. Has interpretation True Impaired Inferred relationship Some 4
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. Has interpretation True Impaired Inferred relationship Some 3
Angelman syndrome Has interpretation True Impaired Inferred relationship Some 3
Borderline intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 2
Lowe syndrome Has interpretation True Impaired Inferred relationship Some 4
Rett syndrome Has interpretation True Impaired Inferred relationship Some 3
Moderate intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 2
Mild intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 2
Seckel syndrome Has interpretation True Impaired Inferred relationship Some 5
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract. Has interpretation True Impaired Inferred relationship Some 7
Borjeson-Forssman-Lehmann syndrome Has interpretation True Impaired Inferred relationship Some 2
Profound intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 2
Hyperphosphatasaemia with intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Bardet-Biedl syndrome Has interpretation True Impaired Inferred relationship Some 2
Tetrasomy 12p syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Coffin-Siris syndrome Has interpretation True Impaired Inferred relationship Some 2
Fragile X syndrome Has interpretation True Impaired Inferred relationship Some 3
Kohlschutter's syndrome Has interpretation True Impaired Inferred relationship Some 6
Hennekam lymphangiectasia-lymphedema syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Has interpretation True Impaired Inferred relationship Some 6
Laurence-Moons syndrom Has interpretation True Impaired Inferred relationship Some 2
A rare congenital neurological disorder with characteristics of the association of partial bilateral aniridia with non-progressive cerebellar ataxia and intellectual disability. Aniridia is visible at birth as fixed dilated pupils. Non-progressive cerebellar ataxia is associated with delayed developmental milestones and hypotonia, gait and balance disorders with incoordination, intention tremor and scanning speech. Sporadic and familial cases have been observed. Has interpretation True Impaired Inferred relationship Some 3
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability with marfanoid habitus (disorder) Has interpretation True Impaired Inferred relationship Some 3
Severe intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 2
Savant syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. Has interpretation True Impaired Inferred relationship Some 4
Ohdo syndrome, Maat-Kievit-Brunner type Has interpretation True Impaired Inferred relationship Some 1
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Has interpretation True Impaired Inferred relationship Some 5
Myhre syndrome Has interpretation True Impaired Inferred relationship Some 5
Renpenning syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Allan-Herndon-Dudley syndrome Has interpretation True Impaired Inferred relationship Some 5
Pitt-Hopkins syndrome Has interpretation True Impaired Inferred relationship Some 2
Christianson syndrome Has interpretation True Impaired Inferred relationship Some 4
PPM-X syndrome Has interpretation True Impaired Inferred relationship Some 2
Partington syndrome Has interpretation True Impaired Inferred relationship Some 2
Snyder-Robinson syndrome Has interpretation True Impaired Inferred relationship Some 2
Deafness-dystonia-optic neuronopathy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract. Has interpretation True Impaired Inferred relationship Some 5
Calcium/calmodulin-dependent serine protein kinase related intellectual disability (disorder) Has interpretation True Impaired Inferred relationship Some 2
Neuronal ceroid lipofuscinosis 8 Has interpretation True Impaired Inferred relationship Some 3
Mowat-Wilson syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
A rare neuro-ophthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanel and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophthalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, simplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits. Has interpretation True Impaired Inferred relationship Some 5
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI. Has interpretation True Impaired Inferred relationship Some 3
A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth). Has interpretation True Impaired Inferred relationship Some 5
Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intellectual disability, severe adult short stature and facial dysmorphism (including hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated. Has interpretation True Impaired Inferred relationship Some 5
X-linked cerebral-cerebellar-coloboma syndrome is a rare, genetic syndrome with a cerebellar malformation as major feature characterized by cerebellar vermis hypo- or aplasia, ventriculomegaly, agenesis of corpus callosum and abnormalities of the brainstem and cerebral cortex in association with ocular coloboma. Clinically, patients show hydrocephalus at birth, neonatal hypotonia with abnormal breathing pattern, ocular abnormalities with impaired vision, severe psychomotor delay, and seizures. Has interpretation True Impaired Inferred relationship Some 4
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. Has interpretation True Impaired Inferred relationship Some 5

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