FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

110359009: Intellectual disability (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

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

543 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability Is a Developmental mental disorder false Inferred relationship Some
Intellectual disability Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability Interprets Intellectual ability (observable entity) true Inferred relationship Some 2
Intellectual disability Has interpretation Impaired true Inferred relationship Some 2
Intellectual disability Is a Impaired cognition (finding) true Inferred relationship Some
Intellectual disability Interprets Adaptation behavior (observable entity) true Inferred relationship Some 3
Intellectual disability Has interpretation Impaired true Inferred relationship Some 3
Intellectual disability Is a Behavior 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
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Intellectual disability Inferred relationship Some
Kagami Ogata syndrome Is a True Intellectual disability Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Intellectual disability, short stature, hypertelorism syndrome Is a True Intellectual disability Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia Is a True Intellectual disability Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) Is a True Intellectual disability Inferred relationship Some
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Is a True Intellectual disability Inferred relationship Some
Jawad syndrome Is a True Intellectual disability Inferred relationship Some
Developmental and speech delay due to SRY-box 5 deficiency (disorder) Is a False Intellectual disability Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) 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 (disorder) Is a True Intellectual disability Inferred relationship Some
White Sutton syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Cyclin-dependent kinase-like 5 deficiency (disorder) 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 (disorder) 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
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Is a True Intellectual disability Inferred relationship Some
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) 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 (disorder) Is a True Intellectual disability Inferred relationship Some
Intellectual disability with strabismus syndrome (disorder) 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 (disorder) Is a True Intellectual disability Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
13q12.3 microdeletion syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
14q24.1q24.3 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
THOC6-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 (disorder) 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 (disorder) Is a True Intellectual disability Inferred relationship Some
Distal Xq28 microduplication syndrome Is a False Intellectual disability Inferred relationship Some
Rare non-syndromic intellectual disability (disorder) Is a True Intellectual disability Inferred relationship Some
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) 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 apnea, mild dysmorphism syndrome Is a True Intellectual disability Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) 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 (disorder) 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 (disorder) 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 (disorder) Is a True Intellectual disability Inferred relationship Some
SYNGAP1-related intellectual disability Is a True Intellectual disability Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) 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 SET domain containing 5 haploinsufficiency (disorder) 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 (disorder) 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, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) 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 (disorder) 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
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (disorder) 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 (disorder) Is a True Intellectual disability Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Intellectual disability Inferred relationship Some
21q22.11q22.12 microdeletion syndrome Is a True Intellectual disability Inferred relationship Some
Ankyrin 3 related intellectual disability, sleep disturbance syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Is a True Intellectual disability Inferred relationship Some
Arts syndrome Is a True Intellectual disability Inferred relationship Some
Cross syndrome Is a True Intellectual disability Inferred relationship Some
Hennekam lymphangiectasia-lymphedema syndrome (disorder) 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
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Intellectual disability Inferred relationship Some
Blepharophimosis, intellectual disability syndrome (disorder) 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 (disorder) Is a True Intellectual disability Inferred relationship Some
N syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Is a True Intellectual disability Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Intellectual disability Inferred relationship Some

Start Previous Page 4 of 6 Next End

This concept is not in any reference sets

Back to Start