Developmental delay

Global developmental delay (disorder)
	Global developmental delay
	algehele ontwikkelingsachterstand
	algemene ontwikkelingsachterstand globale ontwikkelingsachterstand

Id	224958001
Status	Primitive

Pathological process

Pathological developmental process

ICD-10 complex map reference set

Target	F89
Rule	TRUE
Advice	ALWAYS F89
Correlation	SNOMED CT source code to target map code correlation not specified

3-methylglutaconic aciduria type 9

9q21.13 microdeletion syndrome

Autism spectrum disorder due to AUTS2 deficiency

Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome

Basel Vanagaite Smirin Yosef syndrome

Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome

Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome

Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome

Developmental and speech delay due to SOX5 deficiency

Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency

Developmental delay with autism spectrum disorder and gait instability

Developmental delay, facial dysmorphism syndrome due to MED13L deficiency

Early-onset epilepsy, intellectual disability, brain anomalies syndrome

Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome

Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome

Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome

Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome

Global developmental delay, osteopenia, ectodermal defect syndrome

Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome

Growth retardation, mild developmental delay, chronic hepatitis syndrome

Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome

Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome

Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome

Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome

Intellectual disability, hyperkinetic movement, truncal ataxia syndrome

Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome

Intellectual disability, severe speech delay, mild dysmorphism syndrome

ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement

Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

Megaconial congenital muscular dystrophy

Microcephalic cortical malformations, short stature due to RTTN deficiency

Microcephaly-capillary malformation syndrome

Mucopolysaccharidosis-like plus disease

Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome

Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome

Ocular anomalies, axonal neuropathy, developmental delay syndrome

Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome

Pierpont syndrome

PLAA-associated neurodevelopmental disorder

PMP22-RAI1 contiguous gene duplication syndrome

Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome

Progressive cerebello-cerebral atrophy

Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome

PRUNE1-related neurological syndrome

RERE-related neurodevelopmental syndrome

Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome

Short stature with delayed bone age due to thyroid hormone metabolism deficiency

Short stature, brachydactyly, obesity, global developmental delay syndrome

Short ulna, dysmorphism, hypotonia, intellectual disability syndrome

STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome

Syndromic multisystem autoimmune disease due to ITCH deficiency

TELO2-related intellectual disability, neurodevelopmental disorder

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

VPS11-related autosomal recessive hypomyelinating leukodystrophy

X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability

X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome