FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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
175157018 Intellectual limitation en Synonym Inactive 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
3643707012 Mental retardation en Synonym Inactive Case insensitive SNOMED CT core
621452016 Intellectual disability en Fully specified name Inactive 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
CLCN4-related X-linked intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Intellectual disability Inferred relationship Some
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Allan-Herndon-Dudley syndrome Is a True Intellectual disability Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Intellectual disability Inferred relationship Some
PMP22-RAI1 contiguous gene duplication syndrome Is a True Intellectual disability Inferred relationship Some
Christianson syndrome Is a True Intellectual disability Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type Is a True Intellectual disability Inferred relationship Some
Combined oxidative phosphorylation defect type 23 Is a True Intellectual disability Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Congenital cerebellar ataxia due to RNU12 mutation Is a True Intellectual disability Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Is a True Intellectual disability Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Intellectual disability Inferred relationship Some
Metopic ridging, ptosis, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
DYRK1A-related intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a True Intellectual disability Inferred relationship Some
Growth delay, intellectual disability, hepatopathy syndrome Is a True Intellectual disability Inferred relationship Some
Infantile inflammatory bowel disease with neurological involvement Is a True Intellectual disability Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Is a True Intellectual disability Inferred relationship Some
Gabriele-de Vries syndrome Is a True Intellectual disability Inferred relationship Some
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Is a True Intellectual disability Inferred relationship Some
Non-specific syndromic intellectual disability Is a True Intellectual disability Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Intellectual disability Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Intellectual disability Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Witteveen Kolk syndrome Is a True Intellectual disability Inferred relationship Some
Microcephalic cortical malformations, short stature due to RTTN deficiency Is a True Intellectual disability Inferred relationship Some
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Intellectual disability Inferred relationship Some
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome Is a True Intellectual disability Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Intellectual disability Inferred relationship Some
Seizures, scoliosis, macrocephaly syndrome Is a True Intellectual disability Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Intellectual disability Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a True Intellectual disability Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Intellectual disability Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome Is a True Intellectual disability Inferred relationship Some
Sanjad Sakati syndrome Is a True Intellectual disability Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Severe oculo-renal-cerebellar syndrome Is a True Intellectual disability Inferred relationship Some
Progressive cerebello-cerebral atrophy Is a True Intellectual disability Inferred relationship Some
SATB2-associated syndrome Is a True Intellectual disability Inferred relationship Some
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Is a True Intellectual disability Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Intellectual disability Inferred relationship Some
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Intellectual disability Inferred relationship Some
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Is a True Intellectual disability Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Intellectual disability Inferred relationship Some
Pierpont syndrome Is a True Intellectual disability Inferred relationship Some
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Intellectual disability Inferred relationship Some
RARS-related autosomal recessive hypomyelinating leucodystrophy Is a True Intellectual disability Inferred relationship Some
SYNGAP1-related developmental and epileptic encephalopathy Is a True Intellectual disability Inferred relationship Some
PRUNE1-related neurological syndrome Is a True Intellectual disability Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Intellectual disability Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Intellectual disability Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
16p13.2 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
Xq25 microduplication syndrome Is a True Intellectual disability Inferred relationship Some
17q24.2 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
9q21.13 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
11q22.2q22.3 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
19p13.3 microduplication syndrome Is a True Intellectual disability Inferred relationship Some
20q11.2 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
8q24.3 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
Megaconial congenital muscular dystrophy Is a True Intellectual disability Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy Is a True Intellectual disability Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect Is a True Intellectual disability Inferred relationship Some
PDE4D haploinsufficiency syndrome Is a True Intellectual disability Inferred relationship Some
FG syndrome type 1 Is a True Intellectual disability Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Intellectual disability Inferred relationship Some
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Intellectual disability Inferred relationship Some
NDE1-related microhydranencephaly Is a True Intellectual disability Inferred relationship Some
Short stature, developmental delay, congenital heart defect syndrome Is a True Intellectual disability Inferred relationship Some
Coffin-Lowry syndrome Is a True Intellectual disability Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Intellectual disability Inferred relationship Some
4q25 proximal deletion syndrome Is a True Intellectual disability Inferred relationship Some
Lamb Shaffer syndrome Is a True Intellectual disability Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True Intellectual disability Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Intellectual disability Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Intellectual disability Inferred relationship Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability, short stature, overweight syndrome Is a True Intellectual disability Inferred relationship Some
Baraitser Winter cerebrofrontofacial syndrome Is a True Intellectual disability Inferred relationship Some
Menke Hennekam syndrome Is a True Intellectual disability Inferred relationship Some
PUM1-associated developmental disability, ataxia, seizure syndrome Is a True Intellectual disability Inferred relationship Some
WARS2-related combined oxidative phosphorylation defect Is a True Intellectual disability Inferred relationship Some
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome Is a True Intellectual disability Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome Is a True Intellectual disability Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Intellectual disability Inferred relationship Some

Start Page 2 of 6 Next End

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

NSW Emergency Department reference set

Clinical finding foundation reference set

Emergency department diagnosis reference set

Problem/Diagnosis reference set

Back to Start