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224958001: Global developmental delay (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
338115019 Global developmental delay en Synonym Active Entire term case insensitive SNOMED CT core module
612145010 Global developmental delay (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

77 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
Global developmental delay Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Global developmental delay, osteopenia, ectodermal defect syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
Developmental delay with autism spectrum disorder and gait instability Is a True Global developmental delay Inferred relationship Existential restriction modifier
Developmental and speech delay due to SRY-box 5 deficiency Is a False Global developmental delay Inferred relationship Existential restriction modifier
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Microcephaly-capillary malformation syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Ocular anomalies, axonal neuropathy, developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Is a True Global developmental delay Inferred relationship Existential restriction modifier
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Global developmental delay Inferred relationship Existential restriction modifier
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Mucopolysaccharidosis-like plus disease Is a True Global developmental delay Inferred relationship Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
VPS11 core subunit of CORVET and HOPS complexes-related autosomal recessive hypomyelinating leukodystrophy Is a True Global developmental delay Inferred relationship Existential restriction modifier
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Basel Vanagaite Smirin Yosef syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Progressive cerebello-cerebral atrophy Is a True Global developmental delay Inferred relationship Existential restriction modifier
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Global developmental delay Inferred relationship Existential restriction modifier
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Phospholipase A2 activating protein-associated neurodevelopmental disorder Is a True Global developmental delay Inferred relationship Existential restriction modifier
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Pierpont syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Prune exopolyphosphatase 1-related neurological syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
3-methylglutaconic aciduria type 9 Is a True Global developmental delay Inferred relationship Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
9q21.13 microdeletion syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Megaconial congenital muscular dystrophy Is a True Global developmental delay Inferred relationship Existential restriction modifier
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Global developmental delay Inferred relationship Existential restriction modifier
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Coffin-Lowry syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Fatty acyl-coenzyme A reductase 1 deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
16p12.1p12.3 triplication syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Lamb Shaffer syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Global developmental delay Inferred relationship Existential restriction modifier
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Global developmental delay Inferred relationship Existential restriction modifier
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Global developmental delay Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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