FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.10  |  FHIR Version n/a  User: [n/a]

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


183 descendants. Search Descendants:

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

Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start