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248290002: 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
370667011 Developmental delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
638573019 Developmental delay (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
370667011 Developmental delay en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
370667011 Developmental delay en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
638573019 Developmental delay (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
638573019 Developmental delay (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
947701000195115 ritardo dello sviluppo it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
166291000274110 Entwicklungsverzögerung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
111041000077119 retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
111041000077119 retard de développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
947701000195115 ritardo dello sviluppo it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
166291000274110 Entwicklungsverzögerung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

190 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Developmental delay Is a Developmental disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
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
Global developmental delay Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Development delay NOS Is a False Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Cognitive developmental delay (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay in feeding (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay in fine motor function (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay in social skills Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Family history of neurological developmental delay Associated finding True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept) 1
Koolen De Vries syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Cardiocranial syndrome Pfeiffer type (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Bohring Opitz syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Frank-Ter Haar syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterised by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly, short stature, developmental delay syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Disease with characteristics of seizures that are resistant to treatment and begin in infancy. Development is impaired most children have severe intellectual disability and little or no speech. Common features include stereotypies, bruxism, disrupted sleep, feeding difficulties and gastrointestinal problems. Some individuals have distinctive facial features including a high and broad forehead, large and deep-set eyes, a well-defined philtrum, high palate. Microcephaly, scoliosis and tapered fingers have also been reported. Caused by mutations in the CDKL5 gene, which disrupts brain development. Inherited in an X-linked dominant pattern. The CDKL5 gene is located on the X chromosome however almost all cases of this condition result from de novo mutations in the CDKL5 gene. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia Genevieve type (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cataract, hearing loss, severe developmental delay syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Lethal polymalformative syndrome Boissel type Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Xp22.13p22.2 duplication syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder) Is a False Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Delay in sexual development AND/OR puberty (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Phonological delay Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Speech delay Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Expressive language delay Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Receptive language delay Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Delayed pre-verbal development Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Clumsiness - motor delay (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Gross motor development delay (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
PPM-X syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay in receptive-expressive language (disorder) Is a False Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
de Barsey syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Distal 16p11.2 microdeletion syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Beta-D-mannosidosis Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare, severe early-onset neurodegenerative encephalopathy characterized mainly by developmental delay (DD) / developmental regression (DR), epilepsy, cortical atrophy, secondary hypomyelination and thin corpus callosum. Additional features include secondary microcephaly, hypotonia, spasticity, optic atrophy and skeletal anomalies. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, severe developmental delay, epilepsy syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
SATB2-associated syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Joint contractures, developmental delay, Pierre Robin syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
1p35.2 microdeletion syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
9q33.3q34.11 microdeletion syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
16p13.2 microdeletion syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
17q24.2 microdeletion syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
11q22.2q22.3 microdeletion syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Limb girdle muscular dystrophy due to POMK deficiency Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
PDE4D haploinsufficiency syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked syndromic intellectual disability characterised by developmental delay and intellectual disability, early hypotonia, constipation, feeding problems, imperforate anus, characteristic behaviour (affable, eager to please), and dysmorphic craniofacial features (such as relative macrocephaly, prominent forehead with frontal hair upsweep, hypertelorism, downslanting palpebral fissures, and open mouth). Additional manifestations are partial agenesis of the corpus callosum, sensorineural hearing loss, joint laxity, cardiac anomalies, and abnormalities of the fingers and toes, among others. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare ciliopathy characterized by congenital cataract with secondary glaucoma, developmental delay, short stature, multiple skeletal abnormalities (spinal deformities, limb anomalies, delayed bone age), dental anomalies (oligodontia, enamel defects), dysmorphic facial features (including coarse facies, low hairline, epicanthal folds, flat and broad nasal bridges, and retrognathia), and stroke. Other recurrent manifestations are hearing loss and nephrocalcinosis. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Menke Hennekam syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Glutamate ionotropic receptor NMDA type subunit 2B-related developmental delay, intellectual disability, autism spectrum disorder (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare mitochondrial oxidative phosphorylation disorder characterized by early onset of severe developmental delay (sometimes with regression of developmental milestones) and intellectual disability, poor or absent speech, and hypotonia. Other features include movement disorder, seizures, or microcephaly, among others. Brain imaging may show features of Leigh syndrome with signal abnormalities in the basal ganglia or mid brain, cerebellar atrophy, or thin corpus callosum. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
GNAO1-related developmental delay, seizures, movement disorder spectrum Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
At increased risk for delayed development Has realization (attribute) True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept) 2
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
KLHL7-related Bohring Opitz-like syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare neurodevelopmental syndrome characterised by developmental delay, intellectual disability of varying severity and weight disorders (overweight/obesity and eating behaviour disorders including hyperphagia, tachyphagia, food impulsiveness and a feeling of permanent hunger). Additional clinical features include learning difficulties (may be combined with dysphasia, dyspraxia, dyscalculia, dysgraphia), severe language delay, behavioural disorders (stereotypies, impulsiveness or intolerance to frustration, self or hetero aggression, autism spectrum disorder) and non-specific dysmorphism. Epilepsy and ophthalmologic abnormalities can also be observed. Endocrine abnormalities are rarely associated. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and has clinical characteristics of neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and the absence of epilepsy. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
Lysine demethylase 3B-related intellectual disability, facial dysmorphism, short stature syndrome Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia. Is a True Developmental delay Inferred relationship Existential restriction modifier (core metadata concept)

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