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 ability - finding Interprets True Intellectual ability Inferred relationship Some 1
Intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Sanjad Sakati syndrome Interprets True Intellectual ability Inferred relationship Some 5
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Interprets True Intellectual ability Inferred relationship Some 5
Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome Interprets True Intellectual ability Inferred relationship Some 4
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 3
Angelman syndrome Interprets True Intellectual ability Inferred relationship Some 3
Borderline intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Lowe syndrome Interprets True Intellectual ability Inferred relationship Some 4
Rett's disorder Interprets True Intellectual ability Inferred relationship Some 3
Moderate intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Mild intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Seckel syndrome Interprets True Intellectual ability Inferred relationship Some 5
Cutis laxa-corneal clouding-oligophrenia syndrome Interprets True Intellectual ability Inferred relationship Some 7
Borjeson-Forssman-Lehmann syndrome Interprets True Intellectual ability Inferred relationship Some 2
Profound intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Hyperphosphatasaemia with intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Bardet-Biedl syndrome Interprets True Intellectual ability Inferred relationship Some 2
Tetrasomy 12p syndrome Interprets True Intellectual ability Inferred relationship Some 3
Coffin-Siris syndrome Interprets True Intellectual ability Inferred relationship Some 2
Fragile X syndrome Interprets True Intellectual ability Inferred relationship Some 3
Kohlschutter's syndrome Interprets True Intellectual ability Inferred relationship Some 6
Hennekam syndrome Interprets True Intellectual ability Inferred relationship Some 5
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Interprets True Intellectual ability Inferred relationship Some 6
Laurence-Moon syndrome Interprets True Intellectual ability Inferred relationship Some 2
Gillespie syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Interprets True Intellectual ability Inferred relationship Some 5
X-linked intellectual disability with marfanoid habitus Interprets True Intellectual ability Inferred relationship Some 3
Severe intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Savant syndrome Interprets True Intellectual ability Inferred relationship Some 2
MASA syndrome Interprets True Intellectual ability Inferred relationship Some 4
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type Interprets True Intellectual ability Inferred relationship Some 1
Blepharophimosis-intellectual disability syndrome, SBBYS type Interprets True Intellectual ability Inferred relationship Some 5
Myhre syndrome Interprets True Intellectual ability Inferred relationship Some 5
Renpenning syndrome Interprets True Intellectual ability Inferred relationship Some 2
Allan-Herndon-Dudley syndrome Interprets True Intellectual ability Inferred relationship Some 5
Pitt-Hopkins syndrome Interprets True Intellectual ability Inferred relationship Some 2
Christianson syndrome Interprets True Intellectual ability Inferred relationship Some 4
X-linked intellectual disability-psychosis-macroorchidism syndrome Interprets True Intellectual ability Inferred relationship Some 2
Partington syndrome Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability Snyder type Interprets True Intellectual ability Inferred relationship Some 2
Deafness-dystonia-optic neuronopathy syndrome Interprets True Intellectual ability Inferred relationship Some 5
Lethal ataxia-deafness-optic atrophy Interprets True Intellectual ability Inferred relationship Some 5
CASK related intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Neuronal ceroid lipofuscinosis 8 Interprets True Intellectual ability Inferred relationship Some 3
Mowat-Wilson syndrome Interprets True Intellectual ability Inferred relationship Some 5
Autosomal recessive chorioretinopathy and microcephaly syndrome Interprets True Intellectual ability Inferred relationship Some 5
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A (glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A) mutation Interprets True Intellectual ability Inferred relationship Some 3
Microcephalic primordial dwarfism Alazami type Interprets True Intellectual ability Inferred relationship Some 5
Microcephalic primordial dwarfism Dauber type Interprets True Intellectual ability Inferred relationship Some 5
X-linked cerebral, cerebellar, coloboma syndrome Interprets True Intellectual ability Inferred relationship Some 4
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Interprets True Intellectual ability Inferred relationship Some 5
3q27.3 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 4
Microcephaly, thin corpus callosum, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Optic atrophy, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Interprets True Intellectual ability Inferred relationship Some 6
Intellectual disability, seizures, macrocephaly, obesity syndrome Interprets True Intellectual ability Inferred relationship Some 7
Severe motor and intellectual disabilities, sensorineural deafness, dystonia syndrome Interprets True Intellectual ability Inferred relationship Some 6
Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome Interprets True Intellectual ability Inferred relationship Some 4
2p13.2 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 4
Developmental delay with autism spectrum disorder and gait instability Interprets True Intellectual ability Inferred relationship Some 2
5p13 microduplication syndrome Interprets True Intellectual ability Inferred relationship Some 4
11p15.4 microduplication syndrome Interprets True Intellectual ability Inferred relationship Some 4
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WWOX deficiency Interprets True Intellectual ability Inferred relationship Some 5
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Interprets True Intellectual ability Inferred relationship Some 4
Kagami Ogata syndrome Interprets True Intellectual ability Inferred relationship Some 2
Alopecia, progressive neurological defect, endocrinopathy syndrome Interprets True Intellectual ability Inferred relationship Some 4
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 4
Intellectual disability, short stature, hypertelorism syndrome Interprets True Intellectual ability Inferred relationship Some 4
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Interprets True Intellectual ability Inferred relationship Some 5
Hepatic fibrosis, renal cyst, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets True Intellectual ability Inferred relationship Some 6
Pseudoleprechaunism syndrome Patterson type Interprets True Intellectual ability Inferred relationship Some 5
Charcot-Marie-Tooth disease, deafness, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 5
Grubben, De Cock, Borghgraef syndrome Interprets True Intellectual ability Inferred relationship Some 2
Facial dysmorphism, cleft palate, loose skin syndrome Interprets True Intellectual ability Inferred relationship Some 4
Craniofaciofrontodigital syndrome Interprets True Intellectual ability Inferred relationship Some 6
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 4
Cerebrofacioarticular syndrome Interprets True Intellectual ability Inferred relationship Some 3
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 5
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Wiedemann Steiner syndrome Interprets True Intellectual ability Inferred relationship Some 4
Intellectual disability due to nutritional deficiency Interprets True Intellectual ability Inferred relationship Some 3
Craniodigital syndrome and intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Hypotonia, speech impairment, severe cognitive delay syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, alacrima, achalasia syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability, polydactyly, uncombable hair syndrome Interprets True Intellectual ability Inferred relationship Some 4
Intellectual disability, spasticity, ectrodactyly syndrome Interprets True Intellectual ability Inferred relationship Some 5
Intellectual disability, brachydactyly, Pierre Robin syndrome Interprets True Intellectual ability Inferred relationship Some 3
Intellectual disability Wolff type Interprets True Intellectual ability Inferred relationship Some 2
Macrocephaly and developmental delay syndrome Interprets True Intellectual ability Inferred relationship Some 4
Malan overgrowth syndrome Interprets True Intellectual ability Inferred relationship Some 4
Corpus callosum agenesis, abnormal genitalia syndrome Interprets True Intellectual ability Inferred relationship Some 3
Oro-facial digital syndrome type 14 Interprets True Intellectual ability Inferred relationship Some 8
Pachygyria, intellectual disability, epilepsy syndrome Interprets True Intellectual ability Inferred relationship Some 3
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Interprets True Intellectual ability Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Interprets True Intellectual ability Inferred relationship Some 7
Intellectual disability Birk-Barel type Interprets True Intellectual ability Inferred relationship Some 2
Cryptorchidism, arachnodactyly, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 2
Intellectual disability, myopathy, short stature, endocrine defect syndrome Interprets True Intellectual ability Inferred relationship Some 5

Page 1 of 6 Next End


Reference Sets

Observable entity foundation reference set

Back to Start