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260379002: Impaired (qualifier value)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
387919014 Impaired en Synonym Active Case insensitive SNOMED CT core
652129014 Impaired (qualifier value) en Fully specified name Active Case insensitive 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
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Has interpretation True Impaired Inferred relationship Some 4
Seizures and intellectual disability due to hydroxylysinuria syndrome Has interpretation True Impaired Inferred relationship Some 2
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome Has interpretation True Impaired Inferred relationship Some 6
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency Has interpretation True Impaired Inferred relationship Some 3
MOMO syndrome Has interpretation True Impaired Inferred relationship Some 5
Laryngeal abductor paralysis with intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Kleefstra syndrome Has interpretation True Impaired Inferred relationship Some 2
Infantile choroidocerebral calcification syndrome Has interpretation True Impaired Inferred relationship Some 3
Temple Baraitser syndrome Has interpretation True Impaired Inferred relationship Some 4
X-linked spasticity, intellectual disability, epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 5
5-amino-4-imidazole carboxamide ribosiduria Has interpretation True Impaired Inferred relationship Some 3
Bullous dystrophy macular type Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability Buenos Aires type Has interpretation True Impaired Inferred relationship Some 2
Neurofaciodigitorenal syndrome Has interpretation True Impaired Inferred relationship Some 4
CAMOS syndrome Has interpretation True Impaired Inferred relationship Some 4
Caudal appendage deafness syndrome Has interpretation True Impaired Inferred relationship Some 7
Central nervous system calcification, deafness, tubular acidosis, anaemia syndrome Has interpretation True Impaired Inferred relationship Some 7
Weaver Williams syndrome Has interpretation True Impaired Inferred relationship Some 3
Pfeiffer Palm Teller syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, cataract, calcified pinna, myopathy syndrome Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability Hedera type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability Nascimento type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability, limb spasticity, retinal dystrophy, diabetes insipidus syndrome Has interpretation True Impaired Inferred relationship Some 2
Cortical blindness, intellectual disability, polydactyly syndrome Has interpretation True Impaired Inferred relationship Some 5
Osteopenia, intellectual disability, sparse hair syndrome Has interpretation True Impaired Inferred relationship Some 5
Brachydactyly and preaxial hallux varus syndrome Has interpretation True Impaired Inferred relationship Some 3
Spastic paraplegia with precocious puberty syndrome Has interpretation True Impaired Inferred relationship Some 5
Lambert syndrome Has interpretation True Impaired Inferred relationship Some 2
Epilepsy, microcephaly, skeletal dysplasia syndrome Has interpretation True Impaired Inferred relationship Some 6
Epilepsy telangiectasia syndrome Has interpretation True Impaired Inferred relationship Some 5
Bonnemann Meinecke Reich syndrome Has interpretation True Impaired Inferred relationship Some 3
Dysmorphism, short stature, deafness, disorder of sex development syndrome Has interpretation True Impaired Inferred relationship Some 6
Marfanoid habitus with autosomal recessive intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Stimmler syndrome Has interpretation True Impaired Inferred relationship Some 7
Pseudoprogeria syndrome Has interpretation True Impaired Inferred relationship Some 7
Preaxial polydactyly, colobomata, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Has interpretation True Impaired Inferred relationship Some 6
Van den Bosch syndrome Has interpretation True Impaired Inferred relationship Some 4
Aniridia, renal agenesis, psychomotor retardation syndrome Has interpretation True Impaired Inferred relationship Some 3
Thumb stiffness, brachydactyly, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
C syndrome Has interpretation True Impaired Inferred relationship Some 3
Skeletal dysplasia with epilepsy and short stature syndrome Has interpretation True Impaired Inferred relationship Some 3
McDonough syndrome Has interpretation True Impaired Inferred relationship Some 2
MORM syndrome Has interpretation True Impaired Inferred relationship Some 4
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Has interpretation True Impaired Inferred relationship Some 4
GMS syndrome Has interpretation True Impaired Inferred relationship Some 3
Harrod syndrome Has interpretation True Impaired Inferred relationship Some 5
Goldblatt Wallis syndrome Has interpretation True Impaired Inferred relationship Some 3
Early onset parkinsonism and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Microcephaly with deafness and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Alopecia and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Urban Rogers Meyer syndrome Has interpretation True Impaired Inferred relationship Some 3
Female restricted epilepsy with intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
FRAXE intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
L1 syndrome Has interpretation True Impaired Inferred relationship Some 3
Trisomy 10p Has interpretation True Impaired Inferred relationship Some 4
Microphthalmia with ankyloblepharon and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Wolf Hirschhorn syndrome Has interpretation True Impaired Inferred relationship Some 3
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Has interpretation True Impaired Inferred relationship Some 6
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Has interpretation True Impaired Inferred relationship Some 1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Has interpretation True Impaired Inferred relationship Some 5
Spastic paraplegia, glaucoma, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Has interpretation True Impaired Inferred relationship Some 5
Megalocornea with intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Has interpretation True Impaired Inferred relationship Some 4
SCARF syndrome Has interpretation True Impaired Inferred relationship Some 6
Temtamy preaxial brachydactyly syndrome Has interpretation True Impaired Inferred relationship Some 6
Blepharophimosis, intellectual disability syndrome, Verloes type Has interpretation True Impaired Inferred relationship Some 3
Severe intellectual disability and progressive spastic paraplegia Has interpretation False Impaired Inferred relationship Some 5
Atypical hypotonia cystinuria syndrome Has interpretation True Impaired Inferred relationship Some 5
Synaptic Ras GTPase activating protein 1- related intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 5
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation False Impaired Inferred relationship Some 4
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Has interpretation True Impaired Inferred relationship Some 2
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Has interpretation True Impaired Inferred relationship Some 3
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Has interpretation True Impaired Inferred relationship Some 5
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Has interpretation True Impaired Inferred relationship Some 4
Congenital muscular dystrophy with intellectual disability and severe epilepsy Has interpretation True Impaired Inferred relationship Some 4
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Has interpretation True Impaired Inferred relationship Some 3
Hereditary cryohydrocytosis with reduced stomatin Has interpretation True Impaired Inferred relationship Some 6
Richieri Costa-da Silva syndrome Has interpretation True Impaired Inferred relationship Some 4
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Has interpretation True Impaired Inferred relationship Some 5
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Has interpretation True Impaired Inferred relationship Some 7
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Has interpretation True Impaired Inferred relationship Some 4
Macrocephaly, intellectual disability, autism syndrome Has interpretation True Impaired Inferred relationship Some 4
Congenital muscular dystrophy with intellectual disability Has interpretation True Impaired Inferred relationship Some 4
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Has interpretation True Impaired Inferred relationship Some 4
X-linked intellectual disability due to GRIA3 mutations Has interpretation True Impaired Inferred relationship Some 2
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Muscle eye brain disease with bilateral multicystic leukodystrophy Has interpretation True Impaired Inferred relationship Some 7
Hyperekplexia epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 5
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Has interpretation True Impaired Inferred relationship Some 2
21q22.11q22.12 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Has interpretation True Impaired Inferred relationship Some 3
ANK3-related intellectual disability, sleep disturbance syndrome Has interpretation True Impaired Inferred relationship Some 2
14q32 deletion syndrome Has interpretation True Impaired Inferred relationship Some 4
Mowat-Wilson syndrome due to monosomy 2q22 Has interpretation True Impaired Inferred relationship Some 6
X-linked complicated corpus callosum dysgenesis Has interpretation True Impaired Inferred relationship Some 3
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation True Impaired Inferred relationship Some 9
X-linked intellectual disability Brooks type Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability hypotonic face syndrome Has interpretation True Impaired Inferred relationship Some 2

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Reference Sets

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