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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
Diencephalic mesencephalic junction dysplasia (disorder) Has interpretation True Impaired Inferred relationship Some 4
Purine rich element binding protein A syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
PPP2R5D-related intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) 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 (disorder) Has interpretation True Impaired Inferred relationship Some 4
Jawad syndrome Has interpretation True Impaired Inferred relationship Some 6
Developmental and speech delay due to SRY-box 5 deficiency (disorder) Has interpretation True Impaired Inferred relationship Some 4
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) 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 (disorder) 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 (disorder) Has interpretation True Impaired Inferred relationship Some 5
Cyclin-dependent kinase-like 5 deficiency (disorder) 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 (disorder) 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 (disorder) Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability with strabismus syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
XYLT1-CDG - 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 (disorder) Has interpretation True Impaired Inferred relationship Some 6
13q12.3 microdeletion syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) 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 (disorder) Has interpretation True Impaired Inferred relationship Some 8
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) 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 (disorder) Has interpretation True Impaired Inferred relationship Some 7
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Distal Xq28 microduplication syndrome Has interpretation False Impaired Inferred relationship Some 4
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) 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 (disorder) 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 apnea, 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
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Has interpretation True Impaired Inferred relationship Some 4
Blepharophimosis, intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
Woodhouse Sakati syndrome Has interpretation True Impaired Inferred relationship Some 7
Goldberg Shprintzen megacolon syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 10
Biemond syndrome type 2 (disorder) Has interpretation True Impaired Inferred relationship Some 4
Blepharonasofacial malformation syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
BRESEK syndrome Has interpretation True Impaired Inferred relationship Some 3
Achalasia microcephaly syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
X-linked intellectual disability Atkin type (disorder) Has interpretation True Impaired Inferred relationship Some 5
Oro-facial digital syndrome type 9 (disorder) Has interpretation True Impaired Inferred relationship Some 8
Oro-facial digital syndrome type 11 (disorder) Has interpretation True Impaired Inferred relationship Some 10
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
X-linked neurodegenerative syndrome Hamel type (disorder) Has interpretation True Impaired Inferred relationship Some 4
Fried syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
X-linked intellectual disability Seemanova type (disorder) Has interpretation True Impaired Inferred relationship Some 3
Syndromic X-linked intellectual disability type 11 (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Shrimpton type Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Siderius type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Stevenson type (disorder) Has interpretation True Impaired Inferred relationship Some 4
X-linked intellectual disability Stocco Dos Santos type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Stoll type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Turner type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Van Esch type (disorder) Has interpretation True Impaired Inferred relationship Some 4
X-linked intellectual disability Wilson type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Schimke type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Pai type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Miles Carpenter type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Cilliers type (disorder) Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability Cantagrel type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Armfield type (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Abidi type (disorder) Has interpretation True Impaired Inferred relationship Some 3
Pallister W syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
12q14 microdeletion syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
Shprintzen Goldberg craniosynostosis syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 6
BSG syndrome Has interpretation True Impaired Inferred relationship Some 5
Congenital cataract with ataxia and deafness syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 7
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 4
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 8
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 5
Syndromic X-linked intellectual disability type 7 (disorder) Has interpretation True Impaired Inferred relationship Some 5
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) Has interpretation True Impaired Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 8
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) Has interpretation True Impaired Inferred relationship Some 4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Has interpretation True Impaired Inferred relationship Some 8

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