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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
Alpha-thalassaemia intellectual disability syndrome linked to chromosome 16 Has interpretation True Impaired Inferred relationship Some 3
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Has interpretation True Impaired Inferred relationship Some 9
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Has interpretation True Impaired Inferred relationship Some 6
Spastic paraplegia, glaucoma, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Has interpretation True Impaired Inferred relationship Some 6
Megalocornea with intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Has interpretation True Impaired Inferred relationship Some 5
SCARF syndrome Has interpretation True Impaired Inferred relationship Some 7
Temtamy preaxial brachydactyly syndrome Has interpretation True Impaired Inferred relationship Some 7
Blepharophimosis, intellectual disability syndrome, Verloes type Has interpretation True Impaired Inferred relationship Some 4
Severe intellectual disability and progressive spastic paraplegia Has interpretation False Impaired Inferred relationship Some 6
Atypical hypotonia cystinuria syndrome Has interpretation True Impaired Inferred relationship Some 6
Synaptic Ras GTPase activating protein 1- related intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Severe intellectual disability, progressive spastic diplegia syndrome Has interpretation False Impaired Inferred relationship Some 5
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Has interpretation True Impaired Inferred relationship Some 4
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Has interpretation True Impaired Inferred relationship Some 6
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Has interpretation True Impaired Inferred relationship Some 5
Congenital muscular dystrophy with intellectual disability and severe epilepsy Has interpretation True Impaired Inferred relationship Some 5
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Has interpretation True Impaired Inferred relationship Some 4
Hereditary cryohydrocytosis with reduced stomatin Has interpretation True Impaired Inferred relationship Some 7
Richieri Costa-da Silva syndrome Has interpretation True Impaired Inferred relationship Some 5
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Has interpretation True Impaired Inferred relationship Some 6
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Has interpretation True Impaired Inferred relationship Some 8
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Has interpretation True Impaired Inferred relationship Some 5
Macrocephaly, intellectual disability, autism syndrome Has interpretation True Impaired Inferred relationship Some 5
Congenital muscular dystrophy with intellectual disability Has interpretation True Impaired Inferred relationship Some 5
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability due to GRIA3 mutations Has interpretation True Impaired Inferred relationship Some 3
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 5
Muscle eye brain disease with bilateral multicystic leukodystrophy Has interpretation True Impaired Inferred relationship Some 8
Hyperekplexia epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 7
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Has interpretation True Impaired Inferred relationship Some 3
21q22.11q22.12 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Has interpretation True Impaired Inferred relationship Some 4
ANK3-related intellectual disability, sleep disturbance syndrome Has interpretation True Impaired Inferred relationship Some 3
14q32 deletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Mowat-Wilson syndrome due to monosomy 2q22 Has interpretation True Impaired Inferred relationship Some 7
X-linked complicated corpus callosum dysgenesis Has interpretation True Impaired Inferred relationship Some 4
Contracture with ectodermal dysplasia and orofacial cleft syndrome Has interpretation True Impaired Inferred relationship Some 10
X-linked intellectual disability Brooks type Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability hypotonic face syndrome Has interpretation True Impaired Inferred relationship Some 3
Angelman syndrome due to maternal monosomy 15q11q13 Has interpretation True Impaired Inferred relationship Some 4
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 4
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Tall stature, intellectual disability, renal anomalies syndrome Has interpretation True Impaired Inferred relationship Some 4
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 6
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
RERE-related neurodevelopmental syndrome Has interpretation True Impaired Inferred relationship Some 3
TELO2-related intellectual disability, neurodevelopmental disorder Has interpretation True Impaired Inferred relationship Some 5
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Has interpretation True Impaired Inferred relationship Some 3
CLCN4-related X-linked intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Has interpretation True Impaired Inferred relationship Some 8
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 6
PMP22-RAI1 contiguous gene duplication syndrome Has interpretation True Impaired Inferred relationship Some 5
Combined oxidative phosphorylation defect type 23 Has interpretation True Impaired Inferred relationship Some 7
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
Infantile inflammatory bowel disease with neurological involvement Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Has interpretation True Impaired Inferred relationship Some 3
Gabriele-de Vries syndrome Has interpretation True Impaired Inferred relationship Some 3
GNB5-related intellectual disability, cardiac arrhythmia syndrome Has interpretation True Impaired Inferred relationship Some 4
Growth delay, intellectual disability, hepatopathy syndrome Has interpretation True Impaired Inferred relationship Some 4
Non-specific syndromic intellectual disability Has interpretation True Impaired Inferred relationship Some 3
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Has interpretation True Impaired Inferred relationship Some 3
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 4
Witteveen Kolk syndrome Has interpretation True Impaired Inferred relationship Some 3
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Microcephalic cortical malformations, short stature due to RTTN deficiency Has interpretation True Impaired Inferred relationship Some 6
Intellectual disability, epilepsy, extrapyramidal syndrome Has interpretation True Impaired Inferred relationship Some 7
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome Has interpretation True Impaired Inferred relationship Some 3
VPS11-related autosomal recessive hypomyelinating leucodystrophy Has interpretation True Impaired Inferred relationship Some 5
Seizures, scoliosis, macrocephaly syndrome Has interpretation True Impaired Inferred relationship Some 7
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Has interpretation True Impaired Inferred relationship Some 6
Short stature, brachydactyly, obesity, global developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 6
Spastic paraplegia, severe developmental delay, epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 7
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 7
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Has interpretation True Impaired Inferred relationship Some 6
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Has interpretation True Impaired Inferred relationship Some 6
Basel Vanagaite Smirin Yosef syndrome Has interpretation True Impaired Inferred relationship Some 3
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
Congenital cerebellar ataxia due to RNU12 mutation Has interpretation True Impaired Inferred relationship Some 3
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation True Impaired Inferred relationship Some 8
Metopic ridging, ptosis, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
DYRK1A-related intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
Sanjad Sakati syndrome Has interpretation True Impaired Inferred relationship Some 6
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Has interpretation True Impaired Inferred relationship Some 6
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 4
Severe oculo-renal-cerebellar syndrome Has interpretation True Impaired Inferred relationship Some 9
Severe oculo-renal-cerebellar syndrome Has interpretation False Impaired Inferred relationship Some 10
Fryns Smeets Thiry syndrome Has interpretation True Impaired Inferred relationship Some 2
Fryns Smeets Thiry syndrome Has interpretation True Impaired Inferred relationship Some 3
Progressive cerebello-cerebral atrophy Has interpretation True Impaired Inferred relationship Some 6
Progressive cerebello-cerebral atrophy Has interpretation True Impaired Inferred relationship Some 7

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Reference Sets

Qualifier value foundation reference set

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