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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
Impaired impulse control (finding) Has interpretation True Impaired Inferred relationship Some 1
Impaired concentration (finding) Has interpretation True Impaired Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Has interpretation True Impaired Inferred relationship Some 4
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, feeding difficulty and failure to thrive, cardiac anomalies (septal defects and/or valve dysplasia), joint laxity, short extremities, brachydactyly, carpal and tarsal fusion, cervical vertebral fusion, inner ear malformation with bilateral conductive hearing loss, and dysmorphic facial features (such as hypertelorism, upslanting palpebral fissures, posteriorly rotated ears, anteverted nares, and long philtrum). Additional variable manifestations include gastroesophageal reflux and genitourinary anomalies, among others. Has interpretation True Impaired Inferred relationship Some 3
Nephrogenic systemic fibrosis (disorder) Has interpretation True Impaired Inferred relationship Some 4
A rare syndromic deafness characterized by renal failure without hematuria, parathyroid hyperplasia and sensorineural deafness. There have been no further reports since 1989. Has interpretation False Impaired Inferred relationship Some 5
Disinhibited behaviour due to dementia Has interpretation True Impaired Inferred relationship Some 3
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Has interpretation True Impaired Inferred relationship Some 6
Dementia due to deficiency of folic acid (disorder) Has interpretation True Impaired Inferred relationship Some 1
Microcephaly-deafness-intellectual disability syndrome is characterized by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant. Has interpretation True Impaired Inferred relationship Some 3
Impaired peripheral neurovascular function (finding) Has interpretation True Impaired Inferred relationship Some 1
Impaired peripheral neurovascular function (finding) Has interpretation True Impaired Inferred relationship Some 2
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993. Has interpretation True Impaired Inferred relationship Some 6
Chest resonance to percussion impaired Has interpretation True Impaired Inferred relationship Some 1
An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Has interpretation True Impaired Inferred relationship Some 5
Nutrition impaired (finding) Has interpretation True Impaired Inferred relationship Some 1
Nutrition impaired due to limited access to healthful foods (finding) Has interpretation True Impaired Inferred relationship Some 1
Nutrition impaired due to imbalance of nutrients Has interpretation True Impaired Inferred relationship Some 2
Impaired urinary system function (finding) Has interpretation True Impaired Inferred relationship Some 1
Female stress incontinence Has interpretation True Impaired Inferred relationship Some 2
Urge incontinence of urine Has interpretation True Impaired Inferred relationship Some 2
Reflex incontinence of urine Has interpretation True Impaired Inferred relationship Some 2
Genuine stress incontinence Has interpretation True Impaired Inferred relationship Some 2
Urinary incontinence of non-organic origin Has interpretation True Impaired Inferred relationship Some 2
Intermittent incontinence of urine while sleeping, regardless of whether intermittent daytime urinary incontinence is also present or not. Has interpretation True Impaired Inferred relationship Some 2
Diurnal only enuresis Has interpretation True Impaired Inferred relationship Some 2
Nocturnal AND diurnal enuresis Has interpretation True Impaired Inferred relationship Some 2
Functional urinary incontinence Has interpretation True Impaired Inferred relationship Some 2
Total urinary incontinence Has interpretation True Impaired Inferred relationship Some 2
Urinary incontinence (finding) Has interpretation True Impaired Inferred relationship Some 1
Cough - urge incontinence of urine Has interpretation False Impaired Inferred relationship Some 2
Giggle incontinence of urine Has interpretation True Impaired Inferred relationship Some 2
Orgasmic incontinence of urine Has interpretation True Impaired Inferred relationship Some 2
Post-micturition incontinence Has interpretation True Impaired Inferred relationship Some 2
Postural urinary incontinence Has interpretation True Impaired Inferred relationship Some 2
Daytime enuresis Has interpretation True Impaired Inferred relationship Some 2
Urinary incontinence due to urethral sphincter incompetence (finding) Has interpretation False Impaired Inferred relationship Some 2
Mixed urinary incontinence Has interpretation True Impaired Inferred relationship Some 2
Incontinence due to detrusor instability (finding) Has interpretation True Impaired Inferred relationship Some 2
Stress incontinence after prostatectomy Has interpretation True Impaired Inferred relationship Some 3
Overflow incontinence of urine (finding) Has interpretation True Impaired Inferred relationship Some 2
Intermittent urinary incontinence (finding) Has interpretation True Impaired Inferred relationship Some 2
Non-organic primary nocturnal enuresis Has interpretation True Impaired Inferred relationship Some 2
Non-organic secondary nocturnal enuresis Has interpretation True Impaired Inferred relationship Some 2
Non-organic nocturnal enuresis (finding) Has interpretation True Impaired Inferred relationship Some 2
Primary nocturnal enuresis Has interpretation True Impaired Inferred relationship Some 2
Secondary nocturnal enuresis (finding) Has interpretation True Impaired Inferred relationship Some 2
Childhood double incontinence (finding) Has interpretation True Impaired Inferred relationship Some 4
Urinary incontinence co-occurrent and due to prolapse of female genital organ (disorder) Has interpretation True Impaired Inferred relationship Some 4
Stress incontinence co-occurrent and due to pelvic organ prolapse (finding) Has interpretation True Impaired Inferred relationship Some 4
Double incontinence Has interpretation True Impaired Inferred relationship Some 3
Overflow incontinence of urine due to prolapse of female genital organ (disorder) Has interpretation True Impaired Inferred relationship Some 3
Urge incontinence due to prolapse of female genital organ (disorder) Has interpretation True Impaired Inferred relationship Some 3
Mixed incontinence due to prolapse of female genital organ Has interpretation True Impaired Inferred relationship Some 3
Male urinary stress incontinence (finding) Has interpretation True Impaired Inferred relationship Some 2
Urinary incontinence due to benign prostatic hypertrophy (finding) Has interpretation True Impaired Inferred relationship Some 3
Postoperative stress incontinence Has interpretation True Impaired Inferred relationship Some 3
Extraurethral urinary incontinence (finding) Has interpretation True Impaired Inferred relationship Some 1
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder) Has interpretation True Impaired Inferred relationship Some 2
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Has interpretation True Impaired Inferred relationship Some 2
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein Has interpretation True Impaired Inferred relationship Some 2
Postpartum cardiomyopathy Has interpretation True Impaired Inferred relationship Some 3
Dilated peripartum cardiomyopathy Has interpretation True Impaired Inferred relationship Some 3
Primary stress incontinence Has interpretation False Impaired Inferred relationship Some 2
Mutilating keratoderma Has interpretation True Impaired Inferred relationship Some 4
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated. Has interpretation True Impaired Inferred relationship Some 4
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance. Has interpretation True Impaired Inferred relationship Some 4
Congenital faecal incontinence Has interpretation True Impaired Inferred relationship Some 2
Idiopathic fecal incontinence (finding) Has interpretation True Impaired Inferred relationship Some 2
Childhood double incontinence (finding) Has interpretation True Impaired Inferred relationship Some 5
Incontinence of faeces Has interpretation True Impaired Inferred relationship Some 1
Encopresis with constipation AND overflow incontinence Has interpretation True Impaired Inferred relationship Some 1
Spurious diarrhoea - overflow Has interpretation True Impaired Inferred relationship Some 2
Neuromyopathic fecal incontinence Has interpretation True Impaired Inferred relationship Some 2
Fecal fluid leakage (finding) Has interpretation True Impaired Inferred relationship Some 1
Fecal incontinence due to anorectal disorder (finding) Has interpretation True Impaired Inferred relationship Some 3
Non-retentive fecal incontinence Has interpretation True Impaired Inferred relationship Some 1
Functional fecal incontinence (disorder) Has interpretation True Impaired Inferred relationship Some 1
Double incontinence Has interpretation True Impaired Inferred relationship Some 5
Fecal incontinence with incomplete defecation (finding) Has interpretation True Impaired Inferred relationship Some 1
Fecal incontinence with fecal urgency (finding) Has interpretation True Impaired Inferred relationship Some 1
Complete fecal incontinence (finding) Has interpretation True Impaired Inferred relationship Some 1
Urinary incontinence due to urethral sphincter incompetence (finding) Has interpretation True Impaired Inferred relationship Some 1
Cough - urge incontinence of urine Has interpretation True Impaired Inferred relationship Some 1
Primary stress incontinence Has interpretation True Impaired Inferred relationship Some 1
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include congenital hearing impairment (sensorineural, conductive, or mixed), follicular hyperkeratosis, muscle atrophy, and bladder diverticula. Molecular testing is obligatory to confirm the diagnosis. Has interpretation True Impaired Inferred relationship Some 6
The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. Has interpretation True Impaired Inferred relationship Some 6
A rare peripheral neuropathy characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss. Has interpretation True Impaired Inferred relationship Some 5
A rare syndromic genetic deafness characterized by congenital hearing loss, atresia or stenosis of the external auditory canal, dilated internal auditory canal, malformation of the inner ear (incomplete separation of the cochlea basal turn from the fundus of the internal auditory canal), in combination with abnormal auricular shape and facial dysmorphism (including thick eyebrows, ptosis, broad nasal root, and telecanthus). Intelligence is normal and developmental delay is absent. Has interpretation True Impaired Inferred relationship Some 3
A rare, genetic neurological disorder characterized by early-onset severe global developmental delay with regression, congenital or acquired microcephaly, hearing loss, truncal hypotonia, appendicular spasticity, and dystonia and/or myoclonus. Has interpretation True Impaired Inferred relationship Some 2
Cardiorespiratory failure during AND/OR resulting from a procedure Has interpretation True Impaired Inferred relationship Some 4
A rare disorder characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1. Has interpretation False Impaired Inferred relationship Some 3
Alport syndrome X-linked (disorder) Has interpretation True Impaired Inferred relationship Some 2
A rare renal disease characterized by the association of X-linked Alport syndrome (glomerular nephropathy, sensorineural deafness and ocular anomalies) and benign proliferation of visceral smooth muscle cells along the gastrointestinal, respiratory, and female genital tracts and clinically manifests with dysphagia, dyspnea, cough, stridor, postprandial vomiting, retrosternal or epigastric pain, recurrent pneumonia, and clitoral hypertrophy in females. Has interpretation True Impaired Inferred relationship Some 1
Deafness-dystonia-optic neuronopathy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 1
A rare genetic disease characterised by progressive and severe sensorineural hearing loss with onset in the first decade of life, associated with mild thrombocytopenia, often with enlarged platelets. Most patients do not show significant bleeding tendency. Has interpretation True Impaired Inferred relationship Some 1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears), and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination. Has interpretation True Impaired Inferred relationship Some 3
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described. Has interpretation True Impaired Inferred relationship Some 5
Ocular albinism with late-onset sensorineural deafness is a rare, X-linked inherited subtype of ocular albinism characterized by severe visual impairment, translucent pale-blue irises, a reduction in the retinal pigment and moderately severe deafness with onset ranging from adolescence to fourth or fifth decade of life. Has interpretation True Impaired Inferred relationship Some 3
A rare polymorphic disorder, subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1), characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia. Has interpretation True Impaired Inferred relationship Some 3
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

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