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260379002: Impaired (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
387919014 Impaired en Synonym Active Entire term case insensitive SNOMED CT core module
652129014 Impaired (qualifier value) en Fully specified name Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Impaired Is a Degree findings true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
3q27.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Microcephaly, thin corpus callosum, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Optic atrophy, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Has interpretation True Impaired Inferred relationship Existential restriction modifier 6
Intellectual disability, seizures, macrocephaly, obesity syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 7
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 6
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
2p13.2 microdeletion syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Developmental delay with autism spectrum disorder and gait instability Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
5p13 microduplication syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
11p15.4 microduplication syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Kagami Ogata syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Alopecia, progressive neurological defect, endocrinopathy syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Intellectual disability, short stature, hypertelorism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Hepatic fibrosis, renal cyst, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 6
Pseudoleprechaunism syndrome Patterson type Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Grubben, De Cock, Borghgraef syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Facial dysmorphism, cleft palate, loose skin syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Craniofaciofrontodigital syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 6
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Cerebrofacioarticular syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Wiedemann Steiner syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Intellectual disability due to nutritional deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Craniodigital syndrome and intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Hypotonia, speech impairment, severe cognitive delay syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Intellectual disability, alacrima, achalasia syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Intellectual disability, polydactyly, uncombable hair syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Intellectual disability, spasticity, ectrodactyly syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Intellectual disability, brachydactyly, Pierre Robin syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Intellectual disability Wolff type Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Macrocephaly and developmental delay syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Malan overgrowth syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Agenesis of corpus callosum and abnormal genitalia syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Oro-facial digital syndrome type 14 Has interpretation True Impaired Inferred relationship Existential restriction modifier 8
Pachygyria, intellectual disability, epilepsy syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 7
Intellectual disability Birk-Barel type Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Cryptorchidism, arachnodactyly, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Microcephalic primordial dwarfism Montreal type Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 7
Nijmegen breakage syndrome-like disorder Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Activity dependent neuroprotector homeobox related multiple congenital anomalies, intellectual disability, autism spectrum disorder Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 7
Diencephalic mesencephalic junction dysplasia Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Purine rich element binding protein A syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Tall stature, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Polymicrogyria with optic nerve hypoplasia Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Jawad syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Developmental and speech delay due to SRY-box 5 deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
15q overgrowth syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
White Sutton syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Warburg micro syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
RAB18, member RAS oncogene family deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Cyclin-dependent kinase-like 5 deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
X-linked intellectual disability, craniofacioskeletal syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Spondyloepimetaphyseal dysplasia Genevieve type Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Zechi Ceide syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 6
CK syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Roifman syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Intellectual disability with strabismus syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Intellectual disability, facial dysmorphism, hand anomalies syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Xylosyltransferase 1 congenital disorder of glycosylation Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
9q31.1q31.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
14q24.1q24.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
13q12.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 5
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 7
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 4
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 6
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 2
Distal Xq28 microduplication syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 3
Deafness with onychodystrophy syndrome Has interpretation True Impaired Inferred relationship Existential restriction modifier 6

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