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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
CNTNAP2-related developmental and epileptic encephalopathy Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
PDE4D haploinsufficiency syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
FG syndrome type 1 (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Symptomatic form of fragile X syndrome in female carrier (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
PYCR2-related microcephaly, progressive leucoencephalopathy Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
NDE1-related microhydranencephaly Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Short stature, developmental delay, congenital heart defect syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Coffin-Lowry syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 1
Congenital insensitivity to pain with severe intellectual disability (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 8
Pseudoprogeria syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 8
Severe intellectual disability and progressive spastic paraplegia Interprets True Intellectual ability (observable entity) Inferred relationship Some 9
Severe intellectual disability, progressive spastic diplegia syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 8
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 6
Severe oculo-renal-cerebellar syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 9
4q25 proximal deletion syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Lamb Shaffer syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
12p12.1 microdeletion syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
X-linked intellectual disability, hypotonia, movement disorder syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 1
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 7
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
X-linked intellectual disability, short stature, overweight syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Baraitser Winter cerebrofrontofacial syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Menke Hennekam syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
WARS2-related combined oxidative phosphorylation defect Interprets True Intellectual ability (observable entity) Inferred relationship Some 1
Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder Interprets True Intellectual ability (observable entity) Inferred relationship Some 1
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 3
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Combined oxidative phosphorylation defect type 39 Interprets True Intellectual ability (observable entity) Inferred relationship Some 1
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 7
Aldehyde dehydrogenase 18 family member A1-related de Barsy syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Pyrroline-5-carboxylate reductase 1 related de Barsy syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 5
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 1
Clark Baraitser syndrome (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 2
Congenital pontocerebellar hypoplasia type 11 (disorder) Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
Congenital pontocerebellar hypoplasia type 14 Interprets True Intellectual ability (observable entity) Inferred relationship Some 4
SMARCA2-related blepharophimosis, intellectual disability syndrome Interprets True Intellectual ability (observable entity) Inferred relationship Some 2

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