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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
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Xq25 microduplication syndrome Is a True Genetic intellectual disability Inferred relationship Some
17q24.2 microdeletion syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
9q21.13 microdeletion syndrome Is a True Genetic intellectual disability Inferred relationship Some
19p13.3 microduplication syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
20q11.2 microdeletion syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Megaconial congenital muscular dystrophy Is a True Genetic intellectual disability Inferred relationship Some
CNTNAP2-related developmental and epileptic encephalopathy Is a True Genetic intellectual disability Inferred relationship Some
Encephalopathy due to mitochondrial and peroxisomal fission defect (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cross syndrome Is a True Genetic intellectual disability Inferred relationship Some
FG syndrome type 1 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Genetic intellectual disability Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True Genetic intellectual disability Inferred relationship Some
X-linked intellectual disability, short stature, overweight syndrome Is a True Genetic intellectual disability Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Genetic intellectual disability Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Baraitser Winter cerebrofrontofacial syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Spondylometaphyseal dysplasia, corneal dystrophy syndrome Is a True Genetic intellectual disability Inferred relationship Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Genetic intellectual disability Inferred relationship Some
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Combined oxidative phosphorylation defect type 39 Is a True Genetic intellectual disability Inferred relationship Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Is a True Genetic intellectual disability Inferred relationship Some
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Clark Baraitser syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Congenital pontocerebellar hypoplasia type 14 Is a True Genetic intellectual disability Inferred relationship Some
SMARCA2-related blepharophimosis, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Is a True Genetic intellectual disability Inferred relationship Some
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome Is a True Genetic intellectual disability Inferred relationship Some
AMeD syndrome Is a True Genetic intellectual disability Inferred relationship Some
CIMDAG syndrome Is a True Genetic intellectual disability Inferred relationship Some
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Infantile neurodegeneration, progressive spasticity, intellectual disability, white matter lesions syndrome Is a True Genetic intellectual disability Inferred relationship Some
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome Is a True Genetic intellectual disability Inferred relationship Some
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
CPE-related Prader-Willi-like syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, cupped ears syndrome Is a True Genetic intellectual disability Inferred relationship Some
Primary hypomagnesaemia, generalised seizures, intellectual disability, obesity syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, early-onset cataract, microcephaly syndrome Is a True Genetic intellectual disability Inferred relationship Some
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Epidermal growth factor-related primary hypomagnesemia with intellectual disability (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Hereditary persistence of fetal hemoglobin, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Hao Fountain syndrome Is a True Genetic intellectual disability Inferred relationship Some
White Sutton syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Wolf Hirschhorn syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Trigonocephaly C syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Sodium voltage-gated channel alpha subunit 8 developmental and epileptic encephalopathy (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Gillespie syndrome Is a True Genetic intellectual disability Inferred relationship Some
McDonough syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Biemond syndrome type 2 (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Harrod syndrome Is a True Genetic intellectual disability Inferred relationship Some
Kagami Ogata syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Genetic intellectual disability Inferred relationship Some
4q25 proximal deletion syndrome Is a True Genetic intellectual disability Inferred relationship Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Genetic intellectual disability Inferred relationship Some
PDE4D haploinsufficiency syndrome Is a True Genetic intellectual disability Inferred relationship Some
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder Is a True Genetic intellectual disability Inferred relationship Some
Blepharophimosis, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Caudal appendage deafness syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Central nervous system calcification, deafness, tubular acidosis, anemia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Coffin-Siris syndrome Is a True Genetic intellectual disability Inferred relationship Some
Craniofaciofrontodigital syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Cryptorchidism, arachnodactyly, intellectual disability syndrome Is a True Genetic intellectual disability Inferred relationship Some
Cyclin-dependent kinase-like 5 developmental and epileptic encephalopathy (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Disorder of sex development with intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Hepatic fibrosis, renal cyst, intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Facial dysmorphism, cleft palate, loose skin syndrome Is a True Genetic intellectual disability Inferred relationship Some
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability Wolff type Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability Birk-Barel type Is a True Genetic intellectual disability Inferred relationship Some
HIVEP2-related intellectual disability Is a True Genetic intellectual disability Inferred relationship Some
Hypogonadism with mitral valve prolapse and intellectual disability syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, seizures, macrocephaly, obesity syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, polydactyly, uncombable hair syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, short stature, hypertelorism syndrome Is a True Genetic intellectual disability Inferred relationship Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Macrocephaly, short stature, paraplegia syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Microcephalic primordial dwarfism Montreal type Is a True Genetic intellectual disability Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Nijmegen breakage syndrome-like disorder (disorder) Is a True Genetic intellectual disability Inferred relationship Some
Ossification anomaly with psychomotor developmental delay syndrome (disorder) Is a True Genetic intellectual disability Inferred relationship Some

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