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224958001: Global developmental delay (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
338115019 Global developmental delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
612145010 Global developmental delay (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
338115019 Global developmental delay en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
338115019 Global developmental delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
612145010 Global developmental delay (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
612145010 Global developmental delay (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4921941000241117 retard global de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4921941000241117 retard global de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

94 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Global developmental delay Is a Developmental delay true Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic disease characterized by global developmental delay with language and cognition deficiencies, behavioral problems, osteopenia, joint laxity, skin defects consisting of hyperkeratosis and sweat gland and melanocyte abnormalities with hypopigmented areas, and abnormal hair structure. Mild facial dysmorphism (prominent forehead, thick eyebrows, epicanthal folds, broad nasal bridge, long philtrum, and micrognathia), abnormalities of the teeth, and skeletal and cardiac anomalies have also been described. Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay with autism spectrum disorder and gait instability is a rare, genetic, neurological disorder characterised by infant hypotonia and feeding difficulties, global development delay, mild to moderated intellectual disability, delayed independent ambulation, broad-based gait with arms upheld and flexed at the elbow with brisk walking or running, and limited language skills. Behaviour patterns are highly variable and range from sociable and affectionate to autistic behaviour. Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental and speech delay due to SOX5 deficiency Is a False Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Autism spectrum disorder due to AUTS2 deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Global developmental delay 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 Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Global developmental delay 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 Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-capillary malformation syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Ocular anomalies, axonal neuropathy, developmental delay syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
RERE-related neurodevelopmental syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Global developmental delay 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 Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Mucopolysaccharidosis-like plus disease Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cerebello-cerebral atrophy (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) Is a True Global developmental delay 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 Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Pierpont syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
3-methylglutaconic aciduria type 9 Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
9q21.13 microdeletion syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Megaconial congenital muscular dystrophy (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Coffin-Lowry syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
16p12.1p12.3 triplication syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Lamb Shaffer syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by congenital cataract, neonatal hepatic failure and cholestatic jaundice, and global developmental delay. Neonatal death due to progressive liver failure has been reported. Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
NRXN1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 13 Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 14 Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 2-related blepharophimosis, intellectual disability syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset obesity, hyperphagia, severe developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, early-onset cataract, microcephaly syndrome (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Oculogastrointestinal neurodevelopmental syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Global developmental delay Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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