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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

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 Some
Global developmental delay Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) Is a True Global developmental delay Inferred relationship Some
Short stature with delayed bone age due to thyroid hormone metabolism deficiency (disorder) Is a True Global developmental delay Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability (disorder) Is a True Global developmental delay Inferred relationship Some
Developmental and speech delay due to SRY-box 5 deficiency (disorder) Is a False Global developmental delay Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) 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 (disorder) Is a True Global developmental delay Inferred relationship Some
THOC6-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 (disorder) 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 itchy E3 ubiquitin protein ligase deficiency (disorder) Is a True Global developmental delay Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) Is a True Global developmental delay Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) 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 mediator complex subunit 13 like deficiency (disorder) Is a True Global developmental delay Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) 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 (disorder) 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
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (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, lymphedema, 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 (disorder) 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
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) 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 (disorder) 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 rotatin deficiency (disorder) Is a True Global developmental delay Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy 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 (disorder) Is a True Global developmental delay Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) 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 (disorder) 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
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) Is a True Global developmental delay Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) 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 (disorder) Is a True Global developmental delay Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) 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
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Global developmental delay Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) 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
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) 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-coenzyme A reductase 1 deficiency (disorder) Is a True Global developmental delay Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) Is a True Global developmental delay Inferred relationship Some
16p12.1p12.3 triplication syndrome (disorder) 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 (disorder) 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 (disorder) Is a True Global developmental delay Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior 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 (disorder) Is a True Global developmental delay Inferred relationship Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Global developmental delay Inferred relationship Some
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Some
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 Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Global developmental delay Inferred relationship Some
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) Is a True Global developmental delay Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Global developmental delay Inferred relationship Some
Congenital pontocerebellar hypoplasia type 13 Is a True Global developmental delay Inferred relationship Some
Congenital pontocerebellar hypoplasia type 14 Is a True Global developmental delay Inferred relationship Some
SMARCA2-related blepharophimosis, intellectual disability syndrome Is a True Global developmental delay Inferred relationship Some
Early-onset obesity, hyperphagia, severe developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome Is a True Global developmental delay Inferred relationship Some
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) Is a True Global developmental delay Inferred relationship Some
Intellectual disability, early-onset cataract, microcephaly syndrome Is a True Global developmental delay Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Global developmental delay Inferred relationship Some
Oculogastrointestinal neurodevelopmental syndrome Is a True Global developmental delay Inferred relationship Some
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Global developmental delay Inferred relationship Some

This concept is not in any reference sets

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