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224958001: Global developmental delay (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Developmental disorder\Developmental delay\Global developmental delay

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

1934271000052113 generellt försenad utveckling sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	True	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

This concept is not in any reference sets

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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
1934271000052113	generellt försenad utveckling	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)