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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

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Intellectual disability, alacrima, achalasia syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Intellectual disability, polydactyly, uncombable hair syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Intellectual disability, spasticity, ectrodactyly syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Intellectual disability Wolff type Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Macrocephaly and developmental delay syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Malan overgrowth syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Agenesis of corpus callosum and abnormal genitalia syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Oro-facial digital syndrome type 14 Interprets True Intellectual ability (observable entity) Inferred relationship Some 8
Pachygyria, intellectual disability, epilepsy syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 7
Intellectual disability Birk-Barel type Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Cryptorchidism, arachnodactyly, intellectual disability syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
HIVEP2-related intellectual disability Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Microcephalic primordial dwarfism Montreal type Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 7
Nijmegen breakage syndrome-like disorder (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 7
Diencephalic mesencephalic junction dysplasia (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Purine rich element binding protein A syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
PPP2R5D-related intellectual disability Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Polymicrogyria with optic nerve hypoplasia Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Jawad syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Developmental and speech delay due to SRY-box 5 deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
15q overgrowth syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Autism spectrum disorder due to AUTS2 deficiency Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
White Sutton syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Warburg micro syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
RAB18, member RAS oncogene family deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Cyclin-dependent kinase-like 5 deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability, craniofacioskeletal syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Zechi Ceide syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 6
CK syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Roifman syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Intellectual disability with strabismus syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Intellectual disability, facial dysmorphism, hand anomalies syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
XYLT1-CDG - xylosyltransferase 1 congenital disorder of glycosylation Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
14q24.1q24.3 microdeletion syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
13q12.3 microdeletion syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 7
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 6
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Distal Xq28 microduplication syndrome Interprets False Intellectual ability (observable entity) Inferred relationship Some 3
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Deafness with onychodystrophy syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 6
Ataxia, photosensitivity, short stature syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Rare non-syndromic intellectual disability (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Piebald trait with neurologic defects syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Blepharophimosis, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Woodhouse Sakati syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 9
Biemond syndrome type 2 (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Blepharonasofacial malformation syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
BRESEK syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Achalasia microcephaly syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
X-linked intellectual disability Atkin type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Oro-facial digital syndrome type 9 (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 7
Oro-facial digital syndrome type 11 (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 9
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
X-linked neurodegenerative syndrome Hamel type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Fried syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
X-linked intellectual disability Seemanova type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Syndromic X-linked intellectual disability type 11 (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability Shrimpton type Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability Siderius type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability Stevenson type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
X-linked intellectual disability Stocco Dos Santos type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability Stoll type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability Turner type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability Van Esch type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
X-linked intellectual disability Wilson type (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2

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