FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.5  |  FHIR Version n/a  User: [n/a]

110359009: Intellectual disability (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. 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

485 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual disability Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Intellectual disability est un(e) (attribut) troubles mentaux du développement true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Cerebrooculonasal syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Filippi syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Fine Lubinsky syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Holmes Gang syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
syndrome d'hypogonadisme, prolapsus de la valve mitrale, déficience intellectuelle est un(e) (attribut) True Intellectual disability Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Juberg Marsidi syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability with cataract and kyphosis syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Kapur Toriello syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
MEHMO syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Oculopalatocerebral syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Okamoto syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 10 (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome oro-facio-digital type 5 est un(e) (attribut) True Intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital cataract with deafness and hypogonadism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, developmental delay, contracture syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Toriello Carey syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Skeletal dysplasia with intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Isodicentric chromosome 15 syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Faciocardiorenal syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microbrachycephaly, ptosis, cleft lip syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
ataxie cérébelleuse non progressive avec déficience intellectuelle est un(e) (attribut) True Intellectual disability Inferred relationship Some
Phosphoribosylpyrophosphate synthetase superactivity (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Renier Gabreels Jasper syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Ramos Arroyo syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Seizures and intellectual disability due to hydroxylysinuria syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Retinitis pigmentosa, intellectual disability, deafness, hypogenitalism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Laryngeal abductor paralysis with intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Kleefstra syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Infantile choroidocerebral calcification syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Temple Baraitser syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked spasticity, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
5-amino-4-imidazole carboxamide ribosiduria (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder) est un(e) (attribut) False Intellectual disability Inferred relationship Some
Bullous dystrophy macular type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability Buenos Aires type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Neurofaciodigitorenal syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability Brooks type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) True Intellectual disability Inferred relationship Some
Caudal appendage deafness syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Weaver Williams syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability Hedera type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
déficience intellectuelle liée à l'X type Nascimento est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome de déficience intellectuelle liée à l'X-spasticité des membres-dystrophie de la rétine-diabète insipide est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Epilepsy telangiectasia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Dysmorphism, short stature, deafness, disorder of sex development syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome marfanoïde-déficience intellectuelle autosomique récessif est un(e) (attribut) True Intellectual disability Inferred relationship Some
Stimmler syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some

Start Previous Page 4 of 5 End

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

Back to Start