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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
387919014 Impaired en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
119831000077116 altéré fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
119831000077116 altéré fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Impaired (qualifier value) Is a Degree findings true Inferred relationship Existential restriction modifier (core metadata concept)
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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Oculootoradial syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare, severe, circulatory system disease characterised 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Black locks, oculocutaneous albinism, AND deafness of the sensorineural type Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Bosley Salih Alorainy syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Caudal appendage-deafness syndrome is characterised 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Abruzzo Erickson syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Cleft lip/palate-deafness-sacral lipoma syndrome is characterised 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Deafness and intellectual disability Martin Probst type syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital cataract with deafness and hypogonadism syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Nathalie syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Deafness with epiphyseal dysplasia and short stature syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
MEDNIK syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Pili torti-deafness syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked sensorineural hearing loss Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Combined oxidative phosphorylation defect type 25 is a rare mitochondrial oxidative phosphorylation disorder with decreased respiratory complex I and IV enzyme activities, characterised 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Acute kidney injury following administration of contrast media (disorder) Has interpretation False Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Postoperative urinary incontinence Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia caused by manganese and/or manganese compound (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia due to thiamine deficiency (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia due to niacin deficiency (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia due to nutritional deficiency Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia due to cobalamin deficiency Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia due to vitamin E deficiency (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Cognitive impairment due to lead toxicity (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chronic traumatic encephalopathy (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Integral membrane protein 2B related amyloidosis (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Impaired social interaction Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability, epilepsy, extrapyramidal syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Adynamic bone disease (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
trouble de la fonction rénale Has interpretation False Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Phosphate-losing tubular disorders Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Renal function impairment with growth failure (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Renal acidaemia Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Left ventricular failure with normal ejection fraction due to coronary arteriosclerosis (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Left ventricular failure with normal ejection fraction due to cardiomyopathy (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Left ventricular failure with normal ejection fraction due to myocarditis Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Left ventricular failure with normal ejection fraction due to valvular heart disease (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Myocardial dysfunction with sepsis (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 1
Myocardial dysfunction with sepsis (disorder) Has interpretation False Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Left ventricular failure with sepsis Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Right ventricular failure with sepsis (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Intelligenzminderung Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Sanjad Sakati syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Angelman syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Borderline intellectual disability (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Lowe syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Rett syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Moderate intellectual disability (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mild mental retardation (I.Q. 50-70) (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Seckel syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
de Barsey syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 7
Borjeson-Forssman-Lehmann syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Profound intellectual disability (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyperphosphatasemia with intellectual disability (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bardet-Biedl syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetrasomy 12p syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Coffin-Siris syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fragile X syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 6
Hennekam lymphangiectasia-lymphoedema syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 6
Laurence-Moon syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Gillespie syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked intellectual disability with marfanoid habitus (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe mental retardation (I.Q. 20-34) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Savante syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
MASA syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Ohdo syndrome, Maat-Kievit-Brunner type Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 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 (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Myhre syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Renpenning syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Allan-Herndon-Dudley syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Pitt-Hopkins syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual developmental disorder Christianson type (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
PPM-X syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Snyder-Robinson syndrome Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness-dystonia-optic neuronopathy syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Fatal X-linked ataxia with deafness and loss of vision (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
CASK related intellectual disability Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mowat-Wilson syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalic primordial dwarfism Alazami type Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalic primordial dwarfism Dauber type Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation True Impaired (qualifier value) Inferred relationship Existential restriction modifier (core metadata concept) 5

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