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1137472008: Neurodevelopmental delay (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Aug 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4526080011 Neurodevelopmental delay (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4526081010 Neurodevelopmental delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

124 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neurodevelopmental delay (disorder) Is a Developmental delay true Inferred relationship Some
Neurodevelopmental delay (disorder) Is a Neurodevelopmental disorder true Inferred relationship Some
Neurodevelopmental delay (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Clumsiness - motor delay Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Oculogastrointestinal neurodevelopmental syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, early-onset cataract, microcephaly syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
de Barsey syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Gross motor development delay (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
22q13.3 deletion syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Potocki-Shaffer syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
PPM-X syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Developmental delay in fine motor function (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Purine rich element binding protein A syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
SATB2-associated syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Lamb Shaffer syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Coffin-Lowry syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Menke Hennekam syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
2p21 microdeletion syndrome without cystinuria (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Pierpont syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
3-methylglutaconic aciduria type 9 Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
9q33.3q34.11 microdeletion syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Xq25 microduplication syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
17q24.2 microdeletion syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
9q21.13 microdeletion syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
11q22.2q22.3 microdeletion syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Megaconial congenital muscular dystrophy Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
PDE4D haploinsufficiency syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
FG syndrome type 1 (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
X-linked intellectual disability, short stature, overweight syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Primary hypomagnesemia, refractory seizures, intellectual disability syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Combined oxidative phosphorylation defect type 39 Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Neurexin 1-related severe neurodevelopmental disorder, motor stereotypies, chronic constipation, sleep-wake cycle disturbance (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
Congenital pontocerebellar hypoplasia type 14 Is a True Neurodevelopmental delay (disorder) Inferred relationship Some
SMARCA2-related blepharophimosis, intellectual disability syndrome Is a True Neurodevelopmental delay (disorder) Inferred relationship Some

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