248290002: ontwikkelingsachterstand (aandoening)

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental delay	Is a	Developmental disorder	true	Inferred relationship	Some
Developmental delay	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Global developmental delay	Is a	True	Developmental delay	Inferred relationship	Some
Development delay NOS	Is a	False	Developmental delay	Inferred relationship	Some
Cognitive developmental delay (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Developmental delay in feeding (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Developmental delay in fine motor function (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Developmental delay in social skills	Is a	True	Developmental delay	Inferred relationship	Some
Family history of neurological developmental delay	Associated finding	True	Developmental delay	Inferred relationship	Some	1
Koolen De Vries syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Cardiocranial syndrome Pfeiffer type (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Bohring Opitz syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Frank-Ter Haar syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Developmental delay, epilepsy, neonatal diabetes syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Obesity, colitis, hypothyroidism, cardiac hypertrophy, developmental delay syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Cyclin-dependent kinase-like 5 deficiency (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia Genevieve type (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Congenital cataract, progressive muscular hypotonia, hearing loss, developmental delay syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Pancytopenia with developmental delay syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Lethal polymalformative syndrome Boissel type	Is a	True	Developmental delay	Inferred relationship	Some
Xp22.13p22.2 duplication syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Facial dysmorphism, developmental delay, behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (disorder)	Is a	False	Developmental delay	Inferred relationship	Some
Delay in sexual development AND/OR puberty	Is a	True	Developmental delay	Inferred relationship	Some
Phonological delay	Is a	True	Developmental delay	Inferred relationship	Some
Speech delay	Is a	True	Developmental delay	Inferred relationship	Some
Expressive language delay	Is a	True	Developmental delay	Inferred relationship	Some
Receptive language delay (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Delayed pre-verbal development	Is a	True	Developmental delay	Inferred relationship	Some
Clumsiness - motor delay	Is a	True	Developmental delay	Inferred relationship	Some
Gross motor development delay (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
PPM-X syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Developmental delay in receptive-expressive language (disorder)	Is a	False	Developmental delay	Inferred relationship	Some
Pervasive developmental disorder with cognitive developmental delay and complete impairment of functional language (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
de Barsey syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Proximal 16p11.2 microdeletion syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Distal 16p11.2 microdeletion syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Beta-D-mannosidosis	Is a	True	Developmental delay	Inferred relationship	Some
Early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioral abnormalities syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Spastic paraplegia, severe developmental delay, epilepsy syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
SATB2-associated syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Joint contractures, developmental delay, Pierre Robin syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
1p35.2 microdeletion syndrome	Is a	True	Developmental delay	Inferred relationship	Some
9q33.3q34.11 microdeletion syndrome	Is a	True	Developmental delay	Inferred relationship	Some
16p13.2 microdeletion syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Xq25 microduplication syndrome	Is a	True	Developmental delay	Inferred relationship	Some
17q24.2 microdeletion syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
11q22.2q22.3 microdeletion syndrome	Is a	True	Developmental delay	Inferred relationship	Some
8q24.3 microdeletion syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Limb girdle muscular dystrophy due to POMK deficiency	Is a	True	Developmental delay	Inferred relationship	Some
PDE4D haploinsufficiency syndrome	Is a	True	Developmental delay	Inferred relationship	Some
FG syndrome type 1 (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Mitochondrial myopathy, cerebellar ataxia, pigmentary retinopathy syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Oculocerebrodental syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Menke Hennekam syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
GRIN2B-related developmental delay, intellectual disability, autism spectrum disorder	Is a	True	Developmental delay	Inferred relationship	Some
Combined oxidative phosphorylation defect type 39	Is a	True	Developmental delay	Inferred relationship	Some
G protein subunit alpha o1-related developmental delay, seizures, movement disorder spectrum (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome	Is a	True	Developmental delay	Inferred relationship	Some
At increased risk for delayed development	Has realization (attribute)	True	Developmental delay	Inferred relationship	Some	2
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
KLHL7-related Bohring Opitz-like syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Neurodevelopmental delay, hypotonia, cerebellar ataxia, cardiac conduction defects syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Myelin transcription factor 1 like-related developmental delay, intellectual disability, obesity syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
Intermediate DEND syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Developmental delay, immunodeficiency, leukoencephalopathy, hypohomocysteinemia syndrome	Is a	True	Developmental delay	Inferred relationship	Some
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder)	Is a	True	Developmental delay	Inferred relationship	Some
syndroom van Wiedemann-Steiner	Is a	False	Developmental delay	Inferred relationship	Some
Menke-Hennekam-syndroom	Is a	False	Developmental delay	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

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
378651000146117	vertraging in ontwikkeling	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
378661000146119	vertraging in ontwikkeling (aandoening)	nl	Fully specified name	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7880061000146116	ontwikkelingsachterstand (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7886501000146110	ontwikkelingsachterstand	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)