FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to WW domain containing oxidoreductase deficiency (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Kagami-Ogata syndrome is a rare genetic disease characterized by polyhydramnios (mostly due to placentomegaly), fetal macrosomia, abdominal wall defects, skeletal abnormalities (including bell-shaped thorax, coat-hanger appearance of the ribs and decreased mid to wide thorax diameter ratio in infancy), feeding difficulties and impaired swallowing, dysmorphic features (hairy forehead, full cheeks, protruding philtrum, micrognathia), developmental delay and intellectual disability. Additional features may include kyphoscoliosis, joint contractures, diastasis recti, muscular hypotonia. There is increased risk of hepatoblastoma. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability characterised by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnoea. There have been no further descriptions in the literature since 1987. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, short stature, hypertelorism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndrome with characteristics of severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction. There is evidence this disease is caused by homozygous mutation in the TUBA8 gene on chromosome 22q11. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoleprechaunism syndrome Patterson type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder of branched-chain amino acid metabolism with characteristics of childhood-onset epilepsy, autism and intellectual disability with reduced levels of plasma branched chain aminoacids. Caused by homozygous mutation in the BCKDK gene on chromosome 16p11. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Jawad syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Developmental and speech delay due to SOX5 deficiency Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autism spectrum disorder due to AUTS2 deficiency Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
15q overgrowth syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
RAB18 deficiency Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
White Sutton syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary syndromic intellectual disability with characteristics of craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Zechi Ceide syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features. Caused by hemizygous mutation in the NSDHL gene on chromosome Xq28. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation with characteristics of moderate intellectual disability, short stature, mild skeletal changes and distinctive facial features with coarse face, synophrys and deep nasolabial ridges. Skeletal features include broad ribs, stocky long bones, and short femoral necks with coxa valga, clinodactyly and broad thumbs. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, facial dysmorphism, hand anomalies syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Roifman syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability with strabismus syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, short stature, behavioral abnormalities, facial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
9q31.1q31.3 microdeletion syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare chromosomal anomaly with characteristics of moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip) and reduced sensitivity to pain. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epileptic encephalopathy, cortical blindness, intellectual disability, facial dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
14q24.1q24.3 microdeletion syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia) and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth. Caused by heterozygous mutation in the GATAD2B gene on chromosome 1q21. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Schwere früh-beginnende Adipositas mit Insulin-Resistenz-Syndrom durch SH2B1-Mangel Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Distal Xq28 microduplication syndrome (disorder) Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary neurologic disease with characteristics of early-onset cognitive impairment as a sole disability. The disease may be associated with autism, epilepsy and neuromuscular deficits. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hypotonia, brachycephaly, pyloric stenosis, cryptorchidism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa mit schweren Lungen-, Magen-, Darm- und Harnwegs-Anomalien Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Ataxia, photosensitivity, short stature syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Piebald trait with neurologic defects syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Atypical hypotonia cystinuria syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Synaptic Ras GTPase activating protein 1- related intellectual disability (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cryohydrocytosis with reduced stomatin Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare fatal inborn error of metabolism disorder with characteristics of respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic facies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels. Scoliosis, optic atrophy, mild hepatomegaly, and hypoplastic genitalia may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, facial dysmorphism syndrome due to SETD5 haploinsufficiency Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Richieri Costa-da Silva syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of craniofacial dysmorphism including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia and cleft palate. The syndrome is associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, autism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Congenital muscular dystrophy with intellectual disability (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability due to GRIA3 mutations Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, febrile seizures and epilepsy, abnormal gait, vision defects and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Is a False Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
White matter hypoplasia, corpus callosum agenesis, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Hyperekplexia epilepsy syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
21q22.11q22.12 microdeletion syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability disorder with characteristics of variable degrees of intellectual disability, behavioral problems (including attention deficit and hyperactivity disorder, autism spectrum disorder, and aggressiveness) an altered sleeping pattern and delayed speech and language development associated with disruption of ankyrin 3 (ANK3 gene). Additional features observed may include muscular hypotonia and spasticity. Epilepsy, chronic hunger and dysmorphic facial features have been reported. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Fatal X-linked ataxia with deafness and loss of vision (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Cross syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Hennekam lymphangiectasia-lymphoedema syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Gillespie syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Fragile X syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Angelman syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Woodhouse Sakati syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Myhre syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
14q32 deletion syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability hypotonic face syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Tetrasomy 12p syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
N syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Polyhydramnios, megalencephaly, symptomatic epilepsy syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)

Start Previous Page 4 of 6 Next End


Reference Sets

REPLACED BY association reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

Back to Start