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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
X-linked intellectual disability hypotonic face syndrome Has interpretation True Impaired Inferred relationship Some 2
Angelman syndrome due to maternal monosomy 15q11q13 Has interpretation True Impaired Inferred relationship Some 3
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 3
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
Tall stature, intellectual disability, renal anomalies syndrome Has interpretation True Impaired Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 5
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
RERE-related neurodevelopmental syndrome Has interpretation True Impaired Inferred relationship Some 2
TELO2-related intellectual disability, neurodevelopmental disorder Has interpretation True Impaired Inferred relationship Some 4
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Has interpretation True Impaired Inferred relationship Some 2
CLCN4-related X-linked intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Has interpretation True Impaired Inferred relationship Some 2
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Has interpretation True Impaired Inferred relationship Some 7
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 5
PMP22-RAI1 contiguous gene duplication syndrome Has interpretation True Impaired Inferred relationship Some 4
Combined oxidative phosphorylation defect type 23 Has interpretation True Impaired Inferred relationship Some 6
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Infantile inflammatory bowel disease with neurological involvement Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Has interpretation True Impaired Inferred relationship Some 2
Gabriele-de Vries syndrome Has interpretation True Impaired Inferred relationship Some 2
GNB5-related intellectual disability, cardiac arrhythmia syndrome Has interpretation True Impaired Inferred relationship Some 3
Growth delay, intellectual disability, hepatopathy syndrome Has interpretation True Impaired Inferred relationship Some 3
Non-specific syndromic intellectual disability Has interpretation True Impaired Inferred relationship Some 2
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Has interpretation True Impaired Inferred relationship Some 2
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 3
Witteveen Kolk syndrome Has interpretation True Impaired Inferred relationship Some 2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 3
Microcephalic cortical malformations, short stature due to RTTN deficiency Has interpretation True Impaired Inferred relationship Some 5
Intellectual disability, epilepsy, extrapyramidal syndrome Has interpretation True Impaired Inferred relationship Some 6
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome Has interpretation True Impaired Inferred relationship Some 2
VPS11-related autosomal recessive hypomyelinating leucodystrophy Has interpretation True Impaired Inferred relationship Some 4
Seizures, scoliosis, macrocephaly syndrome Has interpretation True Impaired Inferred relationship Some 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Has interpretation True Impaired Inferred relationship Some 5
Short stature, brachydactyly, obesity, global developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 5
Spastic paraplegia, severe developmental delay, epilepsy syndrome Has interpretation True Impaired Inferred relationship Some 6
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 6
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Has interpretation True Impaired Inferred relationship Some 5
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Has interpretation True Impaired Inferred relationship Some 5
Basel Vanagaite Smirin Yosef syndrome Has interpretation True Impaired Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 2
Congenital cerebellar ataxia due to RNU12 mutation Has interpretation True Impaired Inferred relationship Some 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Has interpretation True Impaired Inferred relationship Some 7
Metopic ridging, ptosis, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
DYRK1A-related intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 2
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Has interpretation True Impaired Inferred relationship Some 3
Intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Angelman syndrome Has interpretation True Impaired Inferred relationship Some 4
Borderline intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Lowe syndrome Has interpretation True Impaired Inferred relationship Some 5
Rett's disorder Has interpretation True Impaired Inferred relationship Some 4
Moderate intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Mild intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Seckel syndrome Has interpretation True Impaired Inferred relationship Some 6
Cutis laxa-corneal clouding-oligophrenia syndrome Has interpretation True Impaired Inferred relationship Some 8
Borjeson-Forssman-Lehmann syndrome Has interpretation True Impaired Inferred relationship Some 3
Profound intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Hyperphosphatasaemia with intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Bardet-Biedl syndrome Has interpretation True Impaired Inferred relationship Some 3
Tetrasomy 12p syndrome Has interpretation True Impaired Inferred relationship Some 4
Coffin-Siris syndrome Has interpretation True Impaired Inferred relationship Some 3
Fragile X syndrome Has interpretation True Impaired Inferred relationship Some 4
Kohlschutter's syndrome Has interpretation True Impaired Inferred relationship Some 7
Hennekam syndrome Has interpretation True Impaired Inferred relationship Some 6
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Has interpretation True Impaired Inferred relationship Some 7
Laurence-Moon syndrome Has interpretation True Impaired Inferred relationship Some 3
Gillespie syndrome Has interpretation True Impaired Inferred relationship Some 4
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Has interpretation True Impaired Inferred relationship Some 6
X-linked intellectual disability with marfanoid habitus Has interpretation True Impaired Inferred relationship Some 4
Severe intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Savant syndrome Has interpretation True Impaired Inferred relationship Some 3
MASA syndrome Has interpretation True Impaired Inferred relationship Some 5
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Has interpretation True Impaired Inferred relationship Some 4
Blepharophimosis-intellectual disability syndrome, SBBYS type Has interpretation True Impaired Inferred relationship Some 6
Myhre syndrome Has interpretation True Impaired Inferred relationship Some 6
Renpenning syndrome Has interpretation True Impaired Inferred relationship Some 3
Allan-Herndon-Dudley syndrome Has interpretation True Impaired Inferred relationship Some 8
Pitt-Hopkins syndrome Has interpretation True Impaired Inferred relationship Some 3
Christianson syndrome Has interpretation True Impaired Inferred relationship Some 5
X-linked intellectual disability-psychosis-macroorchidism syndrome Has interpretation True Impaired Inferred relationship Some 3
Partington syndrome Has interpretation True Impaired Inferred relationship Some 3
X-linked intellectual disability Snyder type Has interpretation True Impaired Inferred relationship Some 3
Deafness-dystonia-optic neuronopathy syndrome Has interpretation True Impaired Inferred relationship Some 6
Lethal ataxia-deafness-optic atrophy Has interpretation True Impaired Inferred relationship Some 6
CASK related intellectual disability Has interpretation True Impaired Inferred relationship Some 3
Neuronal ceroid lipofuscinosis 8 Has interpretation True Impaired Inferred relationship Some 4
Mowat-Wilson syndrome Has interpretation True Impaired Inferred relationship Some 6
Autosomal recessive chorioretinopathy and microcephaly syndrome Has interpretation True Impaired Inferred relationship Some 6
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation Has interpretation True Impaired Inferred relationship Some 4
Microcephalic primordial dwarfism Alazami type Has interpretation True Impaired Inferred relationship Some 6
Microcephalic primordial dwarfism Dauber type Has interpretation True Impaired Inferred relationship Some 6
X-linked cerebral, cerebellar, coloboma syndrome Has interpretation True Impaired Inferred relationship Some 5
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Has interpretation True Impaired Inferred relationship Some 6
3q27.3 microdeletion syndrome Has interpretation True Impaired Inferred relationship Some 5
Microcephaly, thin corpus callosum, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Optic atrophy, intellectual disability syndrome Has interpretation True Impaired Inferred relationship Some 4
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Has interpretation True Impaired Inferred relationship Some 7
Intellectual disability, seizures, macrocephaly, obesity syndrome Has interpretation True Impaired Inferred relationship Some 8

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Reference Sets

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