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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

58 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Global developmental delay Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Global developmental delay est un(e) (attribut) retard de développement true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Developmental and speech delay due to SRY-box 5 deficiency (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency est un(e) (attribut) True Global developmental delay Inferred relationship Some
Short ulna, dysmorphism, hypotonia, intellectual disability syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Intellectual disability, severe speech delay, mild dysmorphism syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Growth retardation, mild developmental delay, chronic hepatitis syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Microcephaly-capillary malformation syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Ocular anomalies, axonal neuropathy, developmental delay syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
RERE-related neurodevelopmental syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Early-onset epilepsy, intellectual disability, brain anomalies syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability est un(e) (attribut) True Global developmental delay Inferred relationship Some
Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
STAG1-related intellectual disability, facial dysmorphism, gastrooesophageal reflux syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Mucopolysaccharidosis-like plus disease est un(e) (attribut) True Global developmental delay Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
VPS11-related autosomal recessive hypomyelinating leukodystrophy est un(e) (attribut) True Global developmental delay Inferred relationship Some
Short stature, brachydactyly, obesity, global developmental delay syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Basel Vanagaite Smirin Yosef syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement est un(e) (attribut) True Global developmental delay Inferred relationship Some
Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Pierpont syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Prune exopolyphosphatase 1-related neurological syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
3-methylglutaconic aciduria type 9 est un(e) (attribut) True Global developmental delay Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
9q21.13 microdeletion syndrome est un(e) (attribut) True Global developmental delay Inferred relationship Some
Megaconial congenital muscular dystrophy est un(e) (attribut) True Global developmental delay Inferred relationship Some
Global developmental delay, osteopenia, ectodermal defect syndrome (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some
petite taille-retard d'âge osseux par déficit du métabolisme de l'hormone thyroïdienne est un(e) (attribut) True Global developmental delay Inferred relationship Some
Developmental delay with autism spectrum disorder and gait instability (disorder) est un(e) (attribut) True Global developmental delay Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Most commonly used clinical problems, conditions, diagnoses, symptoms, findings and complaints, as interpreted by the provider reference set (foundation metadata concept)

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