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110359009: Intellectual disability (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Aug 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
175156010 Intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2715379015 Intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642975016 Intellectual developmental disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
175156010 Intellectual disability en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
175156010 Intellectual disability en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
621452016 Intellectual disability en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2715379015 Intellectual disability (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
2715379015 Intellectual disability (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3642975016 Intellectual developmental disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3643707012 Mental retardation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
931241000195118 disabilità intellettiva it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
417131000274115 Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
452931000274110 Mentale Retardierung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
462951000274113 Geistige Behinderung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4748251000241111 déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4748251000241111 déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
931241000195118 disabilità intellettiva it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
417131000274115 Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
452931000274110 Mentale Retardierung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
462951000274113 Geistige Behinderung de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

549 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Intelligenzminderung Is a Developmental mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Intelligenzminderung Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intelligenzminderung Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Intelligenzminderung Is a Impaired cognition (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intelligenzminderung Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Intelligenzminderung Is a Behavior finding true Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Is a Intellectual ability - finding true Inferred relationship Existential restriction modifier (core metadata concept)
Intelligenzminderung Is a Neurodevelopmental disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Bardet-Biedl syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Siris syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Borjeson-Forssman-Lehmann syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Profound intellectual disability (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with intellectual disability (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Severe mental retardation (I.Q. 20-34) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Moderate intellectual disability (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Rett syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Borderline intellectual disability (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Mild mental retardation (I.Q. 50-70) (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Amelogenesis imperfecta, intellectual disability, and epileptic seizures. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Laurence-Moon syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with marfanoid habitus (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Savante syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Renpenning syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Pitt-Hopkins syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
PPM-X syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome 2q37 deletion syndrome Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual deficit-dystonia-dysarthria syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Snyder-Robinson syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
CASK related intellectual disability Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Progressive epilepsy-intellectual disability syndrome Finnish type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Mowat-Wilson syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
C syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia with epilepsy and short stature syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
McDonough syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
MORM syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Cataract-intellectual disability-anal atresia-urinary defects syndrome is characterised by congenital cataracts with squint, intellectual deficit, anomalies of the genitourinary tract (rectovesical fistula, micropenis, undescended testis, and hypospadias), imperforate anus and other anomalies. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
GMS syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Harrod syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Goldblatt Wallis syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalised osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Female restricted epilepsy with intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
FRAXE intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
L1 syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Trisomy 10p (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Chudley Lowry Hoar syndrome Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Blepharonasofacial malformation syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Achalasia microcephaly syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Atkin type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 9 (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Zorick type Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Fried syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, Seemanova type is characterized by microcephaly, intellectual deficit, growth retardation and hypogenitalism. It has been described in four boys from one family. A characteristic facies and ophthalmologic anomalies were also present and included microphthalmia, microcornea and cataract. Transmission is X-linked. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 11 (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Shrimpton type Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Siderius type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stevenson type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stocco Dos Santos type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Stoll type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Turner type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Van Esch type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Wilson type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Schimke type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Pai type Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Miles Carpenter type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cilliers type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Cantagrel type Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Armfield type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability Abidi type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Pallister W syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterised by uveal coloboma (typically bilateral) variably associated with cleft lip, palate and/or uvula, hearing impairment, and intellectual disability. The spectrum of eye involvement is also variable and includes iris coloboma extending to the choroid, disc, and/or macula, microphthalmia, cataract, and extraocular movement impairment. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
12q14 microdeletion syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Shprintzen Goldberg craniosynostosis syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Branchioskeletogenital syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Carpenter Waziri syndrome Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual deficit, congenital cataract, progressive sensorineural hearing impairment, ataxia, peripheral neuropathy, and short stature. There have been no further descriptions in the literature since 1991. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de déficience intellectuelle liée à l'X-agénésie du corps calleux-quadriparésie spastique Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Pettigrew syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability type 7 (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepiphyseal dysplasia tarda Kohn type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Smith Fineman Myers syndrome Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Disorder of sex development with intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate with short stature and vertebral anomaly syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)

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