FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  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
175156010 Intellectual disability en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
175156010 Intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
621452016 Intellectual disability en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2715379015 Intellectual disability (disorder) en Fully specified name Active Only initial character 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
3643707012 Mental retardation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
931241000195118 disabilità intellettiva it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
417131000274115 Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
452931000274110 Mentale Retardierung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
462951000274113 Geistige Behinderung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4748251000241111 déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4748251000241111 déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931241000195118 disabilità intellettiva it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
417131000274115 Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
452931000274110 Mentale Retardierung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
462951000274113 Geistige Behinderung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

549 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intelligenzminderung Is a Developmental mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intelligenzminderung Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intelligenzminderung Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intelligenzminderung Is a Impaired cognition (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intelligenzminderung Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intelligenzminderung Is a Behavior finding true Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Is a Intellectual ability - finding true Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Is a Neurodevelopmental disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability-short stature-overweight syndrome is a multiple congenital anomalies syndrome characterised by borderline to severe intellectual disability, speech delay, short stature, elevated body mass index, a pattern of truncal obesity (reported in older males), and variable neurologic features (e.g. hypotonia, tremors, gait disturbances, behavioural problems, and seizure disorders). Less common manifestations include microcephaly, microorchidism and/or microphallus. Dysmorphic features have been reported in some patients but no consistent pattern has been noted. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome) corresponds to the appearance of BWS in elderly patients. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Menke Hennekam syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
WARS2-related combined oxidative phosphorylation defect Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurologic disease characterized by axonal sensorimotor neuropathy, progressive optic atrophy, cognitive deficit, bulbar dysfunction, seizures, and early hypotonia and feeding difficulties. Additional possible features include dystonia, scoliosis, joint contractures, ocular anomalies, and urogenital anomalies. Brain MRI reveals variable degrees of cerebral atrophy. The disease is fatal in childhood due to respiratory failure. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Clark Baraitser syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Dysequilibrium syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Aplastic anemia, intellectual disability, dwarfism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
CIMDAG syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare Prader-Willi-like syndrome with characteristics of intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, cupped ears syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)

Start Previous Page 6 of 6

Reference Sets

REPLACED BY association reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

Back to Start