FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  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
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 2
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 2
Tall stature, intellectual disability, renal anomalies syndrome Interprets True Intellectual ability Inferred relationship Some 3
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 5
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 6
RERE-related neurodevelopmental syndrome Interprets True Intellectual ability Inferred relationship Some 2
TELO2-related intellectual disability, neurodevelopmental disorder Interprets True Intellectual ability Inferred relationship Some 4
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Interprets True Intellectual ability Inferred relationship Some 2
CLCN4-related X-linked intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 2
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 6
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Interprets True Intellectual ability Inferred relationship Some 7
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Interprets True Intellectual ability Inferred relationship Some 5
PMP22-RAI1 contiguous gene duplication syndrome Interprets True Intellectual ability Inferred relationship Some 4
Combined oxidative phosphorylation defect type 23 Interprets True Intellectual ability Inferred relationship Some 6
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Infantile inflammatory bowel disease with neurological involvement Interprets True Intellectual ability Inferred relationship Some 4
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Interprets True Intellectual ability Inferred relationship Some 2
Gabriele-de Vries syndrome Interprets True Intellectual ability Inferred relationship Some 2
GNB5-related intellectual disability, cardiac arrhythmia syndrome Interprets True Intellectual ability Inferred relationship Some 3
Growth delay, intellectual disability, hepatopathy syndrome Interprets True Intellectual ability Inferred relationship Some 3
Non-specific syndromic intellectual disability Interprets True Intellectual ability Inferred relationship Some 2
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Interprets True Intellectual ability Inferred relationship Some 2
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Interprets True Intellectual ability Inferred relationship Some 3
Witteveen Kolk syndrome Interprets True Intellectual ability Inferred relationship Some 2
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 3
Microcephalic cortical malformations, short stature due to RTTN deficiency Interprets True Intellectual ability Inferred relationship Some 5
Intellectual disability, epilepsy, extrapyramidal syndrome Interprets True Intellectual ability Inferred relationship Some 6
WAC-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome Interprets True Intellectual ability Inferred relationship Some 2
VPS11-related autosomal recessive hypomyelinating leucodystrophy Interprets True Intellectual ability Inferred relationship Some 4
Seizures, scoliosis, macrocephaly syndrome Interprets True Intellectual ability Inferred relationship Some 6
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction Interprets True Intellectual ability Inferred relationship Some 5
Short stature, brachydactyly, obesity, global developmental delay syndrome Interprets True Intellectual ability Inferred relationship Some 5
Spastic paraplegia, severe developmental delay, epilepsy syndrome Interprets True Intellectual ability Inferred relationship Some 6
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 6
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Interprets True Intellectual ability Inferred relationship Some 5
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Interprets True Intellectual ability Inferred relationship Some 5
Basel Vanagaite Smirin Yosef syndrome Interprets True Intellectual ability Inferred relationship Some 2
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Interprets True Intellectual ability Inferred relationship Some 4
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 2
Congenital cerebellar ataxia due to RNU12 mutation Interprets True Intellectual ability Inferred relationship Some 2
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Interprets True Intellectual ability Inferred relationship Some 7
Metopic ridging, ptosis, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 3
DYRK1A-related intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 2
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 3
Severe oculo-renal-cerebellar syndrome Interprets False Intellectual ability Inferred relationship Some 10
Fryns Smeets Thiry syndrome Interprets True Intellectual ability Inferred relationship Some 3
Progressive cerebello-cerebral atrophy Interprets True Intellectual ability Inferred relationship Some 7
SATB2-associated syndrome Interprets True Intellectual ability Inferred relationship Some 4
Autosomal dominant deafness with onychodystrophy syndrome Interprets True Intellectual ability Inferred relationship Some 6
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Interprets True Intellectual ability Inferred relationship Some 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Interprets True Intellectual ability Inferred relationship Some 7
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 6
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Interprets True Intellectual ability Inferred relationship Some 4
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Interprets True Intellectual ability Inferred relationship Some 6
Cross syndrome Interprets True Intellectual ability Inferred relationship Some 2
Microcephaly with brachydactyly and kyphoscoliosis syndrome Interprets True Intellectual ability Inferred relationship Some 9
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Interprets True Intellectual ability Inferred relationship Some 5
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 6
NKX6-2-related autosomal recessive hypomyelinating leucodystrophy Interprets True Intellectual ability Inferred relationship Some 10
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Interprets True Intellectual ability Inferred relationship Some 7
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Interprets True Intellectual ability Inferred relationship Some 4
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Interprets True Intellectual ability Inferred relationship Some 7
QRICH1-related intellectual disability, chondrodysplasia syndrome Interprets True Intellectual ability Inferred relationship Some 5
Keppen Lubinsky syndrome Interprets True Intellectual ability Inferred relationship Some 5
Pierpont syndrome Interprets True Intellectual ability Inferred relationship Some 4
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 6
RARS-related autosomal recessive hypomyelinating leucodystrophy Interprets True Intellectual ability Inferred relationship Some 5
SYNGAP1-related developmental and epileptic encephalopathy Interprets True Intellectual ability Inferred relationship Some 4
PRUNE1-related neurological syndrome Interprets True Intellectual ability Inferred relationship Some 4
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Interprets True Intellectual ability Inferred relationship Some 6
3-methylglutaconic aciduria type 9 Interprets True Intellectual ability Inferred relationship Some 3
Anterior maxillary protrusion, strabismus, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 7
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Interprets True Intellectual ability Inferred relationship Some 6
9q33.3q34.11 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 6
16p13.2 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 5
Xq25 microduplication syndrome Interprets True Intellectual ability Inferred relationship Some 5
17q24.2 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 5
9q21.13 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 5
11q22.2q22.3 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 6
19p13.3 microduplication syndrome Interprets True Intellectual ability Inferred relationship Some 6
20q11.2 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 6
8q24.3 microdeletion syndrome Interprets True Intellectual ability Inferred relationship Some 6
Megaconial congenital muscular dystrophy Interprets True Intellectual ability Inferred relationship Some 6
CNTNAP2-related developmental and epileptic encephalopathy Interprets True Intellectual ability Inferred relationship Some 4
Encephalopathy due to mitochondrial and peroxisomal fission defect Interprets True Intellectual ability Inferred relationship Some 5
PDE4D haploinsufficiency syndrome Interprets True Intellectual ability Inferred relationship Some 4
FG syndrome type 1 Interprets True Intellectual ability Inferred relationship Some 3
Symptomatic form of fragile X syndrome in female carrier Interprets True Intellectual ability Inferred relationship Some 4
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Interprets True Intellectual ability Inferred relationship Some 2
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Interprets True Intellectual ability Inferred relationship Some 3
PYCR2-related microcephaly, progressive leucoencephalopathy Interprets True Intellectual ability Inferred relationship Some 2
NDE1-related microhydranencephaly Interprets True Intellectual ability Inferred relationship Some 3
Short stature, developmental delay, congenital heart defect syndrome Interprets True Intellectual ability Inferred relationship Some 2
Coffin-Lowry syndrome Interprets True Intellectual ability Inferred relationship Some 4
Fatty acyl-CoA reductase 1 deficiency Interprets True Intellectual ability Inferred relationship Some 1
Congenital insensitivity to pain with severe intellectual disability Interprets True Intellectual ability Inferred relationship Some 4
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Interprets True Intellectual ability Inferred relationship Some 2
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets True Intellectual ability Inferred relationship Some 8
Pseudoprogeria syndrome Interprets True Intellectual ability Inferred relationship Some 8

Start Previous Page 5 of 6 End

Reference Sets

Observable entity foundation reference set

Back to Start