FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  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
Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephalus, digital anomaly, intellectual disability syndrome est un(e) (attribut) False Intellectual disability Inferred relationship Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Van den Bosch syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Aniridia, renal agenesis, psychomotor retardation syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Megalocornea with intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
SCARF syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 est un(e) (attribut) True Intellectual disability Inferred relationship Some
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Grubben, De Cock, Borghgraef syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Facial dysmorphism, cleft palate, loose skin syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Craniofaciofrontodigital syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cerebrofacioarticular syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Family history of intellectual disability constatation associée (attribut) True Intellectual disability Inferred relationship Some 1
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Wiedemann Steiner syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability screening a pour objet (attribut) True Intellectual disability Inferred relationship Some 2
Intellectual disability due to nutritional deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Craniodigital syndrome and intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, alacrima, achalasia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, polydactyly, uncombable hair syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, spasticity, ectrodactyly syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability Wolff type est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Macrocephaly and developmental delay syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Malan overgrowth syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Agenesis of corpus callosum and abnormal genitalia syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 14 est un(e) (attribut) True Intellectual disability Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability Birk-Barel type est un(e) (attribut) True Intellectual disability Inferred relationship Some
Cryptorchidism, arachnodactyly, intellectual disability syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
HIVEP2-related intellectual disability est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephalic primordial dwarfism Montreal type est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque est un(e) (attribut) True Intellectual disability Inferred relationship Some
Nijmegen breakage syndrome-like disorder (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Diencephalic mesencephalic junction dysplasia (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder est un(e) (attribut) True Intellectual disability Inferred relationship Some
Purine rich element binding protein A syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
PPP2R5D-related intellectual disability est un(e) (attribut) True Intellectual disability Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation est un(e) (attribut) True Intellectual disability Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephalic primordial dwarfism Dauber type est un(e) (attribut) True Intellectual disability Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
5p13 microduplication syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Optic atrophy, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
2p13.2 microdeletion syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive est un(e) (attribut) True Intellectual disability Inferred relationship Some
11p15.4 microduplication syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
3q27.3 microdeletion syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Kagami Ogata syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie est un(e) (attribut) True Intellectual disability Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Intellectual disability, short stature, hypertelorism syndrome est un(e) (attribut) True Intellectual disability Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some
Polymicrogyria with optic nerve hypoplasia est un(e) (attribut) True Intellectual disability Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type (disorder) est un(e) (attribut) True Intellectual disability Inferred relationship Some

Start Previous Page 5 of 5

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