FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

247573007: Intellectual ability (observable entity)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1224048011 Level of intelligence en Synonym Active Case insensitive SNOMED CT core
369675010 Intellectual ability en Synonym Active Case insensitive SNOMED CT core
637762013 Intellectual ability (observable entity) en Fully specified name Active Case insensitive SNOMED CT core

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intellectual ability Is a Characteristic of intellect true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Intellectual disability, myopathy, short stature, endocrine defect syndrome Interprets True Intellectual ability Inferred relationship Some 5
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Interprets True Intellectual ability Inferred relationship Some 2
Sodium voltage-gated channel alpha subunit 8-related epilepsy with encephalopathy Interprets True Intellectual ability Inferred relationship Some 3
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Interprets True Intellectual ability Inferred relationship Some 5
Microcephalic primordial dwarfism Montreal type Interprets True Intellectual ability Inferred relationship Some 5
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Interprets True Intellectual ability Inferred relationship Some 7
Nijmegen breakage syndrome-like disorder Interprets True Intellectual ability Inferred relationship Some 5
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Interprets True Intellectual ability Inferred relationship Some 2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 7
Diencephalic mesencephalic junction dysplasia Interprets True Intellectual ability Inferred relationship Some 3
Purine rich element binding protein A syndrome Interprets True Intellectual ability Inferred relationship Some 2
Protein phosphatase 2 regulatory subunit b (b56) delta-related intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Tall stature, intellectual disability, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 3
Polymicrogyria with optic nerve hypoplasia Interprets True Intellectual ability Inferred relationship Some 3
Autism epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency Interprets True Intellectual ability Inferred relationship Some 3
Jawad syndrome Interprets True Intellectual ability Inferred relationship Some 2
Developmental and speech delay due to SOX5 (SRY-box 5) deficiency Interprets True Intellectual ability Inferred relationship Some 3
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Interprets True Intellectual ability Inferred relationship Some 4
15q overgrowth syndrome Interprets True Intellectual ability Inferred relationship Some 5
Autism spectrum disorder due to AUTS2 deficiency Interprets True Intellectual ability Inferred relationship Some 2
White Sutton syndrome Interprets True Intellectual ability Inferred relationship Some 2
Warburg micro syndrome Interprets True Intellectual ability Inferred relationship Some 4
RAB18, member RAS oncogene family deficiency Interprets True Intellectual ability Inferred relationship Some 4
Cyclin-dependent kinase-like 5 deficiency Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability, craniofacioskeletal syndrome Interprets True Intellectual ability Inferred relationship Some 2
Spondyloepimetaphyseal dysplasia Genevieve type Interprets True Intellectual ability Inferred relationship Some 4
Zechi Ceide syndrome Interprets True Intellectual ability Inferred relationship Some 6
CK syndrome Interprets True Intellectual ability Inferred relationship Some 2
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Interprets True Intellectual ability Inferred relationship Some 2
Roifman syndrome Interprets True Intellectual ability Inferred relationship Some 5
Intellectual disability with strabismus syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, facial dysmorphism, hand anomalies syndrome Interprets True Intellectual ability Inferred relationship Some 3
Xylosyltransferase 1 congenital disorder of glycosylation Interprets True Intellectual ability Inferred relationship Some 2
Severe intellectual disability, short stature, behavioural abnormalities, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 3
9q31.1q31.3 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 4
14q24.1q24.3 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency Interprets True Intellectual ability Inferred relationship Some 5
13q12.3 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 4
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 4
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Interprets True Intellectual ability Inferred relationship Some 2
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Interprets True Intellectual ability Inferred relationship Some 5
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 7
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 4
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Interprets True Intellectual ability Inferred relationship Some 2
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 6
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome Interprets True Intellectual ability Inferred relationship Some 2
Distal Xq28 microduplication syndrome Interprets True Intellectual ability Inferred relationship Some 3
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Deafness with onychodystrophy syndrome Interprets True Intellectual ability Inferred relationship Some 6
Ataxia, photosensitivity, short stature syndrome Interprets True Intellectual ability Inferred relationship Some 4
Rare non-syndromic intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Piebald trait with neurologic defects syndrome Interprets True Intellectual ability Inferred relationship Some 2
AHDC1-related intellectual disability, obstructive sleep apnoea, mild dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 4
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Interprets True Intellectual ability Inferred relationship Some 5
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome Interprets True Intellectual ability Inferred relationship Some 5
Intellectual disability, severe speech delay, mild dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 2
Moynahan syndrome Interprets True Intellectual ability Inferred relationship Some 3
Blepharophimosis, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Woodhouse Sakati syndrome Interprets True Intellectual ability Inferred relationship Some 6
Goldberg Shprintzen megacolon syndrome Interprets True Intellectual ability Inferred relationship Some 9
Biemond syndrome type 2 Interprets True Intellectual ability Inferred relationship Some 3
Blepharonasofacial malformation syndrome Interprets True Intellectual ability Inferred relationship Some 2
BRESEK syndrome Interprets True Intellectual ability Inferred relationship Some 2
Achalasia microcephaly syndrome Interprets True Intellectual ability Inferred relationship Some 5
Atkin Flaitz syndrome Interprets True Intellectual ability Inferred relationship Some 4
Orofaciodigital syndrome type 9 Interprets True Intellectual ability Inferred relationship Some 7
Orofaciodigital syndrome type 11 Interprets True Intellectual ability Inferred relationship Some 9
Spondyloepiphyseal dysplasia Nishimura type Interprets True Intellectual ability Inferred relationship Some 5
X-linked intellectual disability with ataxia and apraxia syndrome Interprets True Intellectual ability Inferred relationship Some 4
X-linked neurodegenerative syndrome Hamel type Interprets True Intellectual ability Inferred relationship Some 3
Fried syndrome Interprets True Intellectual ability Inferred relationship Some 3
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome Interprets True Intellectual ability Inferred relationship Some 3
X-linked intellectual disability Seemanova type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Shashi type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Shrimpton type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Siderius type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Stevenson type Interprets True Intellectual ability Inferred relationship Some 3
X-linked intellectual disability Stocco Dos Santos type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Stoll type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Turner type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Van Esch type Interprets True Intellectual ability Inferred relationship Some 3
X-linked intellectual disability Wilson type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Schimke type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Pai type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Miles-Carpenter type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Cilliers type Interprets True Intellectual ability Inferred relationship Some 4
X-linked intellectual disability Cantagrel type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Armfield type Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Abidi type Interprets True Intellectual ability Inferred relationship Some 2
W syndrome Interprets True Intellectual ability Inferred relationship Some 2
Uveal coloboma with cleft lip and palate and intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 4
12q14 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 6
Shprintzen-Goldberg syndrome Interprets True Intellectual ability Inferred relationship Some 5
Branchioskeletogenital syndrome Interprets True Intellectual ability Inferred relationship Some 4
Congenital cataract with ataxia and deafness syndrome Interprets True Intellectual ability Inferred relationship Some 6
X-linked intellectual disability with cerebellar hypoplasia syndrome Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 3

Start Page 2 of 6 Next End

Reference Sets

Observable entity foundation reference set

Back to Start