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224958001: Global developmental delay (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

77 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Global developmental delay Pathological process Pathological developmental process true Inferred relationship Some 1
Global developmental delay Is a Developmental delay true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Developmental and speech delay due to SOX5 (SRY-box 5) deficiency Is a False Global developmental delay Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischaemic stroke, retinitis pigmentosa syndrome Is a True Global developmental delay Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency Is a True Global developmental delay Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Some
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Global developmental delay Inferred relationship Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome Is a True Global developmental delay Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome Is a True Global developmental delay Inferred relationship Some
Syndromic multisystem autoimmune disease due to ITCH deficiency Is a True Global developmental delay Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency Is a True Global developmental delay Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a True Global developmental delay Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Global developmental delay Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Global developmental delay Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Global developmental delay Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to MED13L deficiency Is a True Global developmental delay Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome Is a True Global developmental delay Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a True Global developmental delay Inferred relationship Some
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome Is a True Global developmental delay Inferred relationship Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Global developmental delay Inferred relationship Some
TELO2-related intellectual disability, neurodevelopmental disorder Is a True Global developmental delay Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Global developmental delay Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Some
Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Global developmental delay Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome Is a True Global developmental delay Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Global developmental delay Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
PMP22-RAI1 contiguous gene duplication syndrome Is a True Global developmental delay Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome Is a True Global developmental delay Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Global developmental delay Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Mucopolysaccharidosis-like plus disease Is a True Global developmental delay Inferred relationship Some
Microcephalic cortical malformations, short stature due to RTTN deficiency Is a True Global developmental delay Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leucodystrophy Is a True Global developmental delay Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome Is a True Global developmental delay Inferred relationship Some
Progressive cerebello-cerebral atrophy Is a True Global developmental delay Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Global developmental delay Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome Is a True Global developmental delay Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Global developmental delay Inferred relationship Some
PLAA-associated neurodevelopmental disorder Is a True Global developmental delay Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Global developmental delay Inferred relationship Some
Pierpont syndrome Is a True Global developmental delay Inferred relationship Some
PRUNE1-related neurological syndrome Is a True Global developmental delay Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Global developmental delay Inferred relationship Some
3-methylglutaconic aciduria type 9 Is a True Global developmental delay Inferred relationship Some
TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Global developmental delay Inferred relationship Some
9q21.13 microdeletion syndrome Is a True Global developmental delay Inferred relationship Some
Megaconial congenital muscular dystrophy Is a True Global developmental delay Inferred relationship Some
CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation Is a True Global developmental delay Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Global developmental delay Inferred relationship Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Global developmental delay Inferred relationship Some
Coffin-Lowry syndrome Is a True Global developmental delay Inferred relationship Some
Fatty acyl-CoA reductase 1 deficiency Is a True Global developmental delay Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Is a True Global developmental delay Inferred relationship Some
16p12.1p12.3 triplication syndrome Is a True Global developmental delay Inferred relationship Some
Lamb Shaffer syndrome Is a True Global developmental delay Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Global developmental delay Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Global developmental delay Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Global developmental delay Inferred relationship Some
Congenital contracture of limbs and face, hypotonia, developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Spastic ataxia, dysarthria due to glutaminase deficiency Is a True Global developmental delay Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behaviour syndrome Is a True Global developmental delay Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Global developmental delay Inferred relationship Some
Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Global developmental delay Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Global developmental delay Inferred relationship Some
Global developmental delay, osteopenia, ectodermal defect syndrome Is a True Global developmental delay Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency Is a True Global developmental delay Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability Is a True Global developmental delay Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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