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1362108000: Genetic intellectual disability (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5444307014 Genetic intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5444308016 Genetic intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

538 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Genetic intellectual disability Is a Intellectual disability true Inferred relationship Some
Genetic intellectual disability Is a Genetic disease true Inferred relationship Some
Genetic intellectual disability Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Genetic intellectual disability Interprets Intellectual ability (observable entity) true Inferred relationship Some 1
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 1
Genetic intellectual disability Interprets Adaptation behavior (observable entity) true Inferred relationship Some 2
Genetic intellectual disability Has interpretation Impaired true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Ataxia, photosensitivity, short stature syndrome Is a True Genetic intellectual disability Inferred relationship Some
Rare non-syndromic intellectual disability (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Piebald trait with neurologic defects syndrome Is a True Genetic intellectual disability Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Genetic intellectual disability Inferred relationship Some
Woodhouse Sakati syndrome Is a True Genetic intellectual disability Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Blepharonasofacial malformation syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
BRESEK syndrome Is a True Genetic intellectual disability Inferred relationship Some
Achalasia microcephaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Atkin type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 11 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with ataxia and apraxia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked neurodegenerative syndrome Hamel type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Fried syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Seemanova type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Syndromic X-linked intellectual disability type 11 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Shrimpton type Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Siderius type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Stevenson type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Stocco Dos Santos type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Stoll type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Turner type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Van Esch type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Wilson type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Schimke type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Pai type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Miles Carpenter type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Cilliers type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Cantagrel type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Armfield type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Abidi type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Pallister W syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
BSG syndrome Is a True Genetic intellectual disability Inferred relationship Some
Congenital cataract with ataxia and deafness syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Syndromic X-linked intellectual disability type 7 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
17q11.2 microduplication syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Chromosome Xp11.3 microdeletion syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability Cabezas type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with plagiocephaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, macrocephaly, macroorchidism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability with acromegaly and hyperactivity syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Wilson Turner syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Temtamy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Microphthalmia with brain atrophy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cystic fibrosis with gastritis and megaloblastic anemia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ataxia with deafness and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cerebro-facio-thoracic dysplasia (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Aural atresia with multiple congenital anomalies and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cystic leukoencephalopathy without megalencephaly (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cerebrooculonasal syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Filippi syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Fine Lubinsky syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Hall Riggs syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Postaxial polydactyly and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Deafness and intellectual disability Martin Probst type syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Dentinogenesis imperfecta, short stature, hearing loss, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, epilepsy, bulbous nose syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Seizure, sensorineural deafness, ataxia, intellectual disability, electrolyte imbalance syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Kapur Toriello syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
MEHMO syndrome Is a True Genetic intellectual disability Inferred relationship Some
Oculopalatocerebral syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Oro-facial digital syndrome type 10 (disorder) Is a True Genetic intellectual disability Inferred relationship Some

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