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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
Intellectual disability, seizures, macrocephaly, obesity syndrome Has interpretation True Impaired Inferred relationship Some 8
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Has interpretation True Impaired Inferred relationship Some 7
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Has interpretation True Impaired Inferred relationship Some 5
2p13.2 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Developmental delay with autism spectrum disorder and gait instability Has interpretation True Impaired Inferred relationship Some 3
5p13 microduplication syndrome Has interpretation True Impaired Inferred relationship Some 5
11p15.4 microduplication syndrome Has interpretation True Impaired Inferred relationship Some 5
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency Has interpretation True Impaired Inferred relationship Some 6
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Has interpretation True Impaired Inferred relationship Some 5
Kagami Ogata syndrome Has interpretation True Impaired Inferred relationship Some 3
Alopecia, progressive neurological defect, endocrinopathy syndrome Has interpretation True Impaired Inferred relationship Some 5
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, short stature, hypertelorism syndrome Has interpretation True Impaired Inferred relationship Some 5
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Has interpretation True Impaired Inferred relationship Some 6
Hepatic fibrosis, renal cyst, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 5
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Has interpretation True Impaired Inferred relationship Some 7
Pseudoleprechaunism syndrome Patterson type Has interpretation True Impaired Inferred relationship Some 6
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Grubben, De Cock, Borghgraef syndrome Has interpretation True Impaired Inferred relationship Some 3
Facial dysmorphism, cleft palate, loose skin syndrome Has interpretation True Impaired Inferred relationship Some 5
Craniofaciofrontodigital syndrome Has interpretation True Impaired Inferred relationship Some 7
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
Cerebrofacioarticular syndrome Has interpretation True Impaired Inferred relationship Some 4
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Wiedemann Steiner syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability due to nutritional deficiency Has interpretation True Impaired Inferred relationship Some 4
Craniodigital syndrome and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Hypotonia, speech impairment, severe cognitive delay syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, alacrima, achalasia syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, polydactyly, uncombable hair syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, spasticity, ectrodactyly syndrome Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, brachydactyly, Pierre Robin syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability Wolff type Has interpretation True Impaired Inferred relationship Some 3
Macrocephaly and developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 5
Malan overgrowth syndrome Has interpretation True Impaired Inferred relationship Some 5
Corpus callosum agenesis, abnormal genitalia syndrome Has interpretation True Impaired Inferred relationship Some 4
Oro-facial digital syndrome type 14 Has interpretation True Impaired Inferred relationship Some 9
Pachygyria, intellectual disability, epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 4
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Has interpretation True Impaired Inferred relationship Some 3
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Has interpretation True Impaired Inferred relationship Some 8
Intellectual disability Birk-Barel type Has interpretation True Impaired Inferred relationship Some 3
Cryptorchidism, arachnodactyly, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, myopathy, short stature, endocrine defect syndrome Has interpretation True Impaired Inferred relationship Some 6
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Has interpretation True Impaired Inferred relationship Some 3
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy Has interpretation True Impaired Inferred relationship Some 4
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Has interpretation True Impaired Inferred relationship Some 6
Microcephalic primordial dwarfism Montreal type Has interpretation True Impaired Inferred relationship Some 6
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Has interpretation True Impaired Inferred relationship Some 8
Nijmegen breakage syndrome-like disorder Has interpretation True Impaired Inferred relationship Some 6
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Has interpretation True Impaired Inferred relationship Some 3
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 8
Diencephalic mesencephalic junction dysplasia Has interpretation True Impaired Inferred relationship Some 4
Purine rich element binding protein A syndrome Has interpretation True Impaired Inferred relationship Some 3
Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Tall stature, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
Polymicrogyria with optic nerve hypoplasia Has interpretation True Impaired Inferred relationship Some 4
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Has interpretation True Impaired Inferred relationship Some 4
Jawad syndrome Has interpretation True Impaired Inferred relationship Some 6
Developmental and speech delay due to SOX5 (SRY-box 5) deficiency Has interpretation True Impaired Inferred relationship Some 4
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Has interpretation True Impaired Inferred relationship Some 7
15q overgrowth syndrome Has interpretation True Impaired Inferred relationship Some 6
Autism spectrum disorder due to AUTS2 deficiency Has interpretation True Impaired Inferred relationship Some 3
White Sutton syndrome Has interpretation True Impaired Inferred relationship Some 3
Warburg micro syndrome Has interpretation True Impaired Inferred relationship Some 5
RAB18, member RAS oncogene family deficiency Has interpretation True Impaired Inferred relationship Some 5
Cyclin-dependent kinase-like 5 deficiency Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability, craniofacioskeletal syndrome Has interpretation True Impaired Inferred relationship Some 3
Spondyloepimetaphyseal dysplasia Genevieve type Has interpretation True Impaired Inferred relationship Some 5
Zechi Ceide syndrome Has interpretation True Impaired Inferred relationship Some 7
CK syndrome Has interpretation True Impaired Inferred relationship Some 3
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Has interpretation True Impaired Inferred relationship Some 3
Roifman syndrome Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability with strabismus syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, facial dysmorphism, hand anomalies syndrome Has interpretation True Impaired Inferred relationship Some 4
Xylosyltransferase 1 congenital disorder of glycosylation Has interpretation True Impaired Inferred relationship Some 3
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
9q31.1q31.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 5
14q24.1q24.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Has interpretation True Impaired Inferred relationship Some 6
13q12.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Has interpretation True Impaired Inferred relationship Some 6
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 8
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Some 3
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Some 3
Distal Xq28 microduplication syndrome Has interpretation True Impaired Inferred relationship Some 4
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Deafness with onychodystrophy syndrome Has interpretation True Impaired Inferred relationship Some 7
Ataxia, photosensitivity, short stature syndrome Has interpretation True Impaired Inferred relationship Some 5
Rare non-syndromic intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Piebald trait with neurologic defects syndrome Has interpretation True Impaired Inferred relationship Some 3
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Has interpretation True Impaired Inferred relationship Some 4

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Reference Sets

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