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247573007: Intellectual ability (observable entity)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
369675010 Intellectual ability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
637762013 Intellectual ability (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1224048011 Level of intelligence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
369675010 Intellectual ability en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
369675010 Intellectual ability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
637762013 Intellectual ability (observable entity) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
637762013 Intellectual ability (observable entity) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1224048011 Level of intelligence en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1224048011 Level of intelligence en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual ability (observable entity) Is a Characteristic of intellect true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Intelligence quotient Is a True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept)
Clever Is a False Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept)
Gifted Is a False Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept)
Above average intellect (observable entity) Is a False Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual frailty of aging Is a False Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept)
Intelligence quotient low Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Below average intellect Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Low intelligence Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 1
Average intellect Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Above average intellect Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual precocity Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Genius (I.Q.....) Interprets False Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept)
Intelligence quotient high (finding) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 1
IQ - intelligence quotient normal Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 1
Underestimates intellectual ability (finding) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual ability - finding Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 1
Intelligenzminderung Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Sanjad Sakati syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Angelman syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Borderline intellectual disability (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Lowe syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Rett syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Moderate intellectual disability (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Mild mental retardation (I.Q. 50-70) (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Seckel syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
de Barsey syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 7
Borjeson-Forssman-Lehmann syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Profound intellectual disability (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Hyperphosphatasemia with intellectual disability (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Bardet-Biedl syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetrasomy 12p syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Coffin-Siris syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Fragile X syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Hennekam lymphangiectasia-lymphoedema syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Laurence-Moon syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Gillespie syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked intellectual disability with marfanoid habitus (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Severe mental retardation (I.Q. 20-34) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Savante syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
MASA syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Ohdo syndrome, Maat-Kievit-Brunner type Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 1
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Myhre syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Renpenning syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Allan-Herndon-Dudley syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Pitt-Hopkins syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual developmental disorder Christianson type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
PPM-X syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Snyder-Robinson syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deafness-dystonia-optic neuronopathy syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Fatal X-linked ataxia with deafness and loss of vision (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
CASK related intellectual disability Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Mowat-Wilson syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Early-onset epileptic encephalopathy and intellectual disability due to glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A mutation (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalic primordial dwarfism Alazami type Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Microcephalic primordial dwarfism Dauber type Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
X-linked cerebral, cerebellar, coloboma syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Optic atrophy, intellectual disability syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 7
A rare, genetic, neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy). Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
2p13.2 microdeletion syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
5p13 microduplication syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
11p15.4 microduplication syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Intellectual disability, short stature, hypertelorism syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Pseudoleprechaunism syndrome Patterson type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Grubben, De Cock, Borghgraef syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 2
Facial dysmorphism, cleft palate, loose skin syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniofaciofrontodigital syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 6
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Cerebrofacioarticular syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome is an ectodermal dysplasia syndrome characterised by severe generalised lamellar icthyosis at birth with alopecia, eclabium, ectropion and intellectual disability. Although similar to Sjögren-Larsson syndrome, this syndrome lacks the presence of neurologic or macular changes. There have been no further descriptions in the literature since 1987. Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 5
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Wiedemann Steiner syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 4
Intellectual disability due to nutritional deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniodigital syndrome and intellectual disability syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Interprets True Intellectual ability (observable entity) Inferred relationship Existential restriction modifier (core metadata concept) 3

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