FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

1362108000: Genetic intellectual disability (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5444307014 Genetic intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444308016 Genetic intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

538 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic intellectual disability Is a Intellectual disability true Inferred relationship Some
Genetic intellectual disability Is a Genetic disease true Inferred relationship Some
Genetic intellectual disability Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Genetic intellectual disability Interprets Intellectual ability (observable entity) true Inferred relationship Some 1
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 1
Genetic intellectual disability Interprets Adaptation behavior (observable entity) true Inferred relationship Some 2
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Oro-facial digital syndrome type 10 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 5 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Toriello Carey syndrome Is a True Genetic intellectual disability Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Faciocardiorenal syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Fallot complex with intellectual disability and growth delay syndrome Is a True Genetic intellectual disability Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
N syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ramos Arroyo syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Kleefstra syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Infantile choroidocerebral calcification syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Bullous dystrophy macular type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability Buenos Aires type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Neurofaciodigitorenal syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Weaver Williams syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Hedera type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Nascimento type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a True Genetic intellectual disability Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome Is a True Genetic intellectual disability Inferred relationship Some
Marfanoid habitus with autosomal recessive intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Stimmler syndrome Is a True Genetic intellectual disability Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Van den Bosch syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Genetic intellectual disability Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Goniodysgenesis with intellectual disability and short stature syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Hypospadias and intellectual disability syndrome Goldblatt type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Early onset parkinsonism and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Alopecia and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
PCDH19 clustering epilepsy Is a True Genetic intellectual disability Inferred relationship Some
FRAXE intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
L1 syndrome Is a True Genetic intellectual disability Inferred relationship Some
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Alpha-thalassemia intellectual disability syndrome linked to chromosome 16 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Genetic intellectual disability Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Megalocornea with intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
SCARF syndrome Is a True Genetic intellectual disability Inferred relationship Some
Temtamy preaxial brachydactyly syndrome Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability and progressive spastic paraplegia Is a True Genetic intellectual disability Inferred relationship Some
Atypical hypotonia cystinuria syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Congenital muscular dystrophy with intellectual disability and severe epilepsy Is a True Genetic intellectual disability Inferred relationship Some
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Hereditary cryohydrocytosis with reduced stomatin Is a True Genetic intellectual disability Inferred relationship Some
Richieri Costa-da Silva syndrome Is a True Genetic intellectual disability Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital muscular dystrophy with intellectual disability Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability due to GRIA3 mutations Is a True Genetic intellectual disability Inferred relationship Some
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Genetic intellectual disability Inferred relationship Some
Hyperekplexia epilepsy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some

Start Previous Page 3 of 6 Next End

This concept is not in any reference sets

Back to Start