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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

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
Intellectual disability Buenos Aires type (disorder) Has interpretation True Impaired Inferred relationship Some 3
Neurofaciodigitorenal syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Caudal appendage deafness syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 8
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 8
Weaver Williams syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
X-linked intellectual disability Hedera type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Nascimento type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Brachydactyly and preaxial hallux varus syndrome Has interpretation True Impaired Inferred relationship Some 4
Spastic paraplegia with precocious puberty syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Epilepsy telangiectasia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Dysmorphism, short stature, deafness, disorder of sex development syndrome Has interpretation True Impaired Inferred relationship Some 7
Marfanoid habitus with autosomal recessive intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Stimmler syndrome Has interpretation True Impaired Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 8
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Van den Bosch syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Aniridia, renal agenesis, psychomotor retardation syndrome Has interpretation True Impaired Inferred relationship Some 4
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Trigonocephaly C syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
McDonough syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Harrod syndrome Has interpretation True Impaired Inferred relationship Some 6
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Has interpretation True Impaired Inferred relationship Some 4
Early onset parkinsonism and intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Microcephaly with deafness and intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Alopecia and intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Female restricted epilepsy with intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
FRAXE intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
L1 syndrome Has interpretation True Impaired Inferred relationship Some 4
Trisomy 10p (disorder) Has interpretation True Impaired Inferred relationship Some 5
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Wolf Hirschhorn syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Has interpretation True Impaired Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 9
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Has interpretation True Impaired Inferred relationship Some 6
Spastic paraplegia, glaucoma, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Megalocornea with intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
SCARF syndrome Has interpretation True Impaired Inferred relationship Some 7
Temtamy preaxial brachydactyly syndrome Has interpretation True Impaired Inferred relationship Some 7
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Has interpretation True Impaired Inferred relationship Some 4
Severe intellectual disability and progressive spastic paraplegia Has interpretation False Impaired Inferred relationship Some 6
Atypical hypotonia cystinuria syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
SYNGAP1-related intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Has interpretation False Impaired Inferred relationship Some 5
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Has interpretation True Impaired Inferred relationship Some 4
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Has interpretation True Impaired Inferred relationship Some 5
Congenital muscular dystrophy with intellectual disability and severe epilepsy Has interpretation True Impaired Inferred relationship Some 5
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Hereditary cryohydrocytosis with reduced stomatin Has interpretation True Impaired Inferred relationship Some 7
Richieri Costa-da Silva syndrome Has interpretation True Impaired Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Has interpretation True Impaired Inferred relationship Some 8
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Has interpretation True Impaired Inferred relationship Some 5
Macrocephaly, intellectual disability, autism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Congenital muscular dystrophy with intellectual disability Has interpretation True Impaired Inferred relationship Some 5
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability due to GRIA3 mutations Has interpretation True Impaired Inferred relationship Some 3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 5
Muscle eye brain disease with bilateral multicystic leukodystrophy Has interpretation True Impaired Inferred relationship Some 8
Hyperekplexia epilepsy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 3
21q22.11q22.12 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
14q32 deletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Mowat-Wilson syndrome due to monosomy 2q22 (disorder) Has interpretation True Impaired Inferred relationship Some 7
X-linked complicated corpus callosum dysgenesis (disorder) Has interpretation True Impaired Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 10
X-linked intellectual disability Brooks type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability hypotonic face syndrome Has interpretation True Impaired Inferred relationship Some 3
Angelman syndrome due to maternal monosomy 15q11q13 (disorder) Has interpretation True Impaired Inferred relationship Some 4
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Tall stature, intellectual disability, renal anomalies syndrome Has interpretation True Impaired Inferred relationship Some 4
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 6
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
RERE-related neurodevelopmental syndrome Has interpretation True Impaired Inferred relationship Some 3
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Has interpretation True Impaired Inferred relationship Some 5
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Has interpretation True Impaired Inferred relationship Some 3
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3

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