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110359009: Intellectual disability (disorder)

Status: current, Defined. Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
175156010 Intellectual disability en Synonym Active Case insensitive SNOMED CT core
2715379015 Intellectual disability (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3642975016 Intellectual developmental disorder en Synonym Active Case insensitive SNOMED CT core

518 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability Pathological process Pathological developmental process true Inferred relationship Some 1
Intellectual disability Interprets Intellectual ability true Inferred relationship Some 2
Intellectual disability Has interpretation Impaired true Inferred relationship Some 2
Intellectual disability Is a Impaired cognition true Inferred relationship Some
Intellectual disability Interprets Adaptation behaviour true Inferred relationship Some 3
Intellectual disability Has interpretation Impaired true Inferred relationship Some 3
Intellectual disability Is a Behaviour finding true Inferred relationship Some
Intellectual disability Is a Intellectual ability - finding true Inferred relationship Some
Intellectual disability Is a Neurodevelopmental disorder true Inferred relationship Some
Intellectual disability Is a Developmental mental disorder false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Is a True Intellectual disability Inferred relationship Some
Jawad syndrome Is a True Intellectual disability Inferred relationship Some
Developmental and speech delay due to SOX5 (SRY-box 5) deficiency Is a False Intellectual disability Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Is a True Intellectual disability Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency Is a True Intellectual disability Inferred relationship Some
15q overgrowth syndrome Is a True Intellectual disability Inferred relationship Some
RAB18, member RAS oncogene family deficiency Is a True Intellectual disability Inferred relationship Some
White Sutton syndrome Is a True Intellectual disability Inferred relationship Some
Cyclin-dependent kinase-like 5 deficiency Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability, craniofacioskeletal syndrome Is a True Intellectual disability Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type Is a True Intellectual disability Inferred relationship Some
Zechi Ceide syndrome Is a True Intellectual disability Inferred relationship Some
CK syndrome Is a True Intellectual disability Inferred relationship Some
Xylosyltransferase 1 congenital disorder of glycosylation Is a True Intellectual disability Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Intellectual disability Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a True Intellectual disability Inferred relationship Some
Roifman syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability with strabismus syndrome Is a True Intellectual disability Inferred relationship Some
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
9q31.1q31.3 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Is a True Intellectual disability Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
13q12.3 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Intellectual disability Inferred relationship Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Is a True Intellectual disability Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Intellectual disability Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Intellectual disability Inferred relationship Some
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Distal Xq28 microduplication syndrome Is a True Intellectual disability Inferred relationship Some
Rare non-syndromic intellectual disability Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Is a True Intellectual disability Inferred relationship Some
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Pitt Hopkins-like syndrome Is a False Intellectual disability Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a True Intellectual disability Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Intellectual disability Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Intellectual disability Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Intellectual disability Inferred relationship Some
Piebald trait with neurologic defects syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Intellectual disability Inferred relationship Some
Blepharophimosis, intellectual disability syndrome, Verloes type Is a False Intellectual disability Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Atypical hypotonia cystinuria syndrome Is a True Intellectual disability Inferred relationship Some
Synaptic Ras GTPase activating protein 1- related intellectual disability Is a True Intellectual disability Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Intellectual disability Inferred relationship Some
Hereditary cryohydrocytosis with reduced stomatin Is a True Intellectual disability Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Intellectual disability Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Is a True Intellectual disability Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Intellectual disability Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a True Intellectual disability Inferred relationship Some
Richieri Costa-da Silva syndrome Is a True Intellectual disability Inferred relationship Some
Facial dysmorphism, developmental delay, behavioural abnormalities syndrome due to 10p11.21p12.31 microdeletion Is a False Intellectual disability Inferred relationship Some
Severe microbrachycephaly, intellectual disability, athetoid cerebral palsy syndrome Is a True Intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome Is a True Intellectual disability Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations Is a True Intellectual disability Inferred relationship Some
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Is a False Intellectual disability Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Intellectual disability Inferred relationship Some
Hyperekplexia epilepsy syndrome Is a True Intellectual disability Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Is a True Intellectual disability Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
ANK3-related intellectual disability, sleep disturbance syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Intellectual disability Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Intellectual disability Inferred relationship Some
Lethal ataxia-deafness-optic atrophy Is a True Intellectual disability Inferred relationship Some
Cross syndrome Is a True Intellectual disability Inferred relationship Some
Hennekam syndrome Is a True Intellectual disability Inferred relationship Some
Gillespie syndrome Is a True Intellectual disability Inferred relationship Some
Seckel syndrome Is a True Intellectual disability Inferred relationship Some
Fragile X syndrome Is a True Intellectual disability Inferred relationship Some
Angelman syndrome Is a True Intellectual disability Inferred relationship Some
Lowe syndrome Is a True Intellectual disability Inferred relationship Some
Moynahan syndrome Is a True Intellectual disability Inferred relationship Some
Blepharophimosis, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Woodhouse Sakati syndrome Is a True Intellectual disability Inferred relationship Some
Myhre syndrome Is a True Intellectual disability Inferred relationship Some
14q32 deletion syndrome Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability hypotonic face syndrome Is a True Intellectual disability Inferred relationship Some
Tetrasomy 12p syndrome Is a True Intellectual disability Inferred relationship Some
N syndrome Is a True Intellectual disability Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome Is a True Intellectual disability Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome Is a True Intellectual disability Inferred relationship Some
Deafness-dystonia-optic neuronopathy syndrome Is a True Intellectual disability Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Intellectual disability Inferred relationship Some
TELO2-related intellectual disability, neurodevelopmental disorder Is a True Intellectual disability Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Intellectual disability Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Intellectual disability Inferred relationship Some
CLCN4-related X-linked intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some

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Reference Sets

Emergency department reference set

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

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Clinical finding foundation reference set

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