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
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)
Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, intellectual disability, renal anomalies syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Deafness-dystonia-optic neuronopathy syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
RERE-related neurodevelopmental syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterized by intellectual disability of variable degree, behavioral anomalies (including autism, mood disorders, obsessive-compulsive behavior, and hetero- and auto-aggression), and epilepsy. Progressive neurological symptoms like movement disorders and spasticity, as well as subtle dysmorphic features have also been reported. Heterozygous females may be as severely affected as males. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Allan-Herndon-Dudley syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
An X-linked syndromic intellectual disability characterised by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Combined oxidative phosphorylation defect type 23 Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Metopic ridging, ptosis, facial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
GNB5-related intellectual disability, cardiac arrhythmia syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Growth delay, intellectual disability, hepatopathy syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by infantile onset of severe inflammatory bowel disease manifesting with bloody diarrhoea and failure to thrive, and central nervous system disease with global developmental delay and regression, impaired speech, hypotonia, hyperreflexia, and epilepsy. Brain imaging shows global cerebral atrophy, thin corpus callosum, delayed myelination, and posterior leucoencephalopathy. Cases with recurrent infections and impaired T-cell responses to stimulation, as well as decreased T-cell subsets, have been reported. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Gabriele-de Vries syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Non-specific syndromic intellectual disability Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Witteveen Kolk syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, epilepsy, extrapyramidal syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Seizures, scoliosis, macrocephaly syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, intellectual disability, left ventricular non compaction syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Sanjad Sakati syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic intellectual disability characterized by moderate to severe intellectual deficiency, language deficit (completely absent or significantly impaired speech), and distinctive facial dysmorphism (long face, straight eyebrows, and, less frequently, low-set ears and café-au-lait spots). Additional, variably observed features include motor delays, behavioral difficulties, and seizures. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Severe oculo-renal-cerebellar syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cerebello-cerebral atrophy (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
SATB2-associated syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay and intellectual disability, overweight or obesity, behavioral abnormalities (including hyperactivity, aggressive behavior, anxiety, mood disorder, or autistic features), and facial dysmorphism (such as high forehead, full eyebrows and/or synophrys, upturned nose, and fleshy ears, among others). Additional reported manifestations are hypotonia, ocular anomalies, anomalies of the fingers and toes, joint hypermobility, or abnormal pigmentation. Brain imaging may show mild nonspecific abnormalities. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Craniofacial dysplasia, short stature, ectodermal anomalies, intellectual disability syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare leukodystrophy characterized by a spectrum of progressive neurologic manifestations comprising rapidly progressive early-onset nystagmus, spastic tetraplegia, and visual and hearing impairment, resulting in death in early childhood, as well as later onset of slowly progressive complex spastic ataxia with pyramidal and cerebellar symptoms and loss of developmental milestones. Brain imaging shows diffuse hypomyelination of the subcortical and deep white matter, cerebellar atrophy, and diffuse spinal cord volume loss. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Pierpont syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, juvenile cataract, short stature, intellectual disability syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
SYNGAP1-related developmental and epileptic encephalopathy Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
9q33.3q34.11 microdeletion syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
16p13.2 microdeletion syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
17q24.2 microdeletion syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
9q21.13 microdeletion syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
11q22.2q22.3 microdeletion syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
19p13.3 microduplication syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
20q11.2 microdeletion syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Megaconial congenital muscular dystrophy (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic syndromic neurodevelopmental disorder with characteristics of moderate to mostly severe intellectual disability, speech impairment with normal or mildly delayed motor development and early-onset seizures often accompanied by developmental regression. Autistic behaviour and stereotypic movements are common. The disorder is caused by bi-allelic intragenic deletions (rarely duplications) or truncating variants in the CNTNAP2 gene (7q35-q36.1). It encodes contactin-associated protein 2 (CASPR2), a transmembrane protein from the neurexin superfamily, which is involved in neural-glia interactions and clustering of potassium channels in myelinated axons. Inheritance is autosomal recessive. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
PDE4D haploinsufficiency syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, developmental delay, congenital heart defect syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
4q25 proximal deletion syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Lamb Shaffer syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True Intelligenzminderung Inferred relationship Existential restriction modifier (core metadata concept)

Start Previous Page 5 of 6 End

Reference Sets

REPLACED BY association reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)

Back to Start