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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
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
3q27.3 microdeletion syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Optic atrophy, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Has interpretation True Impaired Inferred relationship Some 4
2p13.2 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 4
Developmental delay with autism spectrum disorder and gait instability (disorder) Has interpretation True Impaired Inferred relationship Some 2
5p13 microduplication syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
11p15.4 microduplication syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 5
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Kagami Ogata syndrome Has interpretation True Impaired Inferred relationship Some 2
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, short stature, hypertelorism syndrome Has interpretation True Impaired Inferred relationship Some 4
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Pseudoleprechaunism syndrome Patterson type (disorder) Has interpretation True Impaired Inferred relationship Some 5
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 5
Grubben, De Cock, Borghgraef syndrome Has interpretation True Impaired Inferred relationship Some 2
Facial dysmorphism, cleft palate, loose skin syndrome Has interpretation True Impaired Inferred relationship Some 4
Craniofaciofrontodigital syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
Cerebrofacioarticular syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 5
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Wiedemann Steiner syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability due to nutritional deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 3
Craniodigital syndrome and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, alacrima, achalasia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, polydactyly, uncombable hair syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, spasticity, ectrodactyly syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability Wolff type Has interpretation True Impaired Inferred relationship Some 2
Macrocephaly and developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 4
Malan overgrowth syndrome Has interpretation True Impaired Inferred relationship Some 4
Agenesis of corpus callosum and abnormal genitalia syndrome Has interpretation True Impaired Inferred relationship Some 3
Oro-facial digital syndrome type 14 Has interpretation True Impaired Inferred relationship Some 8
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Has interpretation True Impaired Inferred relationship Some 7
Intellectual disability Birk-Barel type Has interpretation True Impaired Inferred relationship Some 2
Cryptorchidism, arachnodactyly, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Has interpretation True Impaired Inferred relationship Some 5
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Has interpretation True Impaired Inferred relationship Some 3
HIVEP2-related intellectual disability Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Has interpretation True Impaired Inferred relationship Some 5
Microcephalic primordial dwarfism Montreal type Has interpretation True Impaired Inferred relationship Some 5
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Nijmegen breakage syndrome-like disorder (disorder) Has interpretation True Impaired Inferred relationship Some 5
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Has interpretation True Impaired Inferred relationship Some 2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Diencephalic mesencephalic junction dysplasia (disorder) Has interpretation True Impaired Inferred relationship Some 3
Purine rich element binding protein A syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
PPP2R5D-related intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Polymicrogyria with optic nerve hypoplasia Has interpretation True Impaired Inferred relationship Some 3
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 3
Jawad syndrome Has interpretation True Impaired Inferred relationship Some 2
Developmental and speech delay due to SRY-box 5 deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 3
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
15q overgrowth syndrome Has interpretation True Impaired Inferred relationship Some 5
Autism spectrum disorder due to AUTS2 deficiency Has interpretation True Impaired Inferred relationship Some 2
White Sutton syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Warburg micro syndrome Has interpretation True Impaired Inferred relationship Some 4
RAB18, member RAS oncogene family deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 4
Cyclin-dependent kinase-like 5 deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 2
X-linked intellectual disability, craniofacioskeletal syndrome Has interpretation True Impaired Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Has interpretation True Impaired Inferred relationship Some 4
Zechi Ceide syndrome Has interpretation True Impaired Inferred relationship Some 6
CK syndrome Has interpretation True Impaired Inferred relationship Some 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Has interpretation True Impaired Inferred relationship Some 2
Roifman syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability with strabismus syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Has interpretation True Impaired Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 4
14q24.1q24.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 5
13q12.3 microdeletion syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Has interpretation True Impaired Inferred relationship Some 5
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Some 2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 2
Distal Xq28 microduplication syndrome Has interpretation False Impaired Inferred relationship Some 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Deafness with onychodystrophy syndrome Has interpretation True Impaired Inferred relationship Some 6

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