FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

1148758003: Congenital microcephaly (disorder)

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4551756016 Congenital microcephalus en Synonym Active Case insensitive SNOMED CT core
4551757013 Congenital microcephaly (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4551758015 Congenital microcephaly en Synonym Active Case insensitive SNOMED CT core
4551759011 A rare neurological disorder with characteristics of reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. en Definition Active Case sensitive SNOMED CT core

82 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital microcephaly Occurrence Congenital true Inferred relationship Some 1
Congenital microcephaly Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital microcephaly Has interpretation Below reference range true Inferred relationship Some 2
Congenital microcephaly Associated morphology Congenital smallness true Inferred relationship Some 1
Congenital microcephaly Is a Congenital anomaly of head true Inferred relationship Some
Congenital microcephaly Finding site Structure of head true Inferred relationship Some 1
Congenital microcephaly Is a Microcephaly true Inferred relationship Some
Congenital microcephaly Interprets Birth head circumference true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of congenital microcephaly Associated finding True Congenital microcephaly Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Congenital microcephaly Inferred relationship Some
Amish lethal microcephaly Is a True Congenital microcephaly Inferred relationship Some
Achalasia microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Congenital microcephaly Inferred relationship Some
Stimmler syndrome Is a True Congenital microcephaly Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Congenital microcephaly Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Anonychia with microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Autosomal dominant primary microcephaly Is a True Congenital microcephaly Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a True Congenital microcephaly Inferred relationship Some
Congenital intrauterine infection-like syndrome Is a True Congenital microcephaly Inferred relationship Some
Hennekam Beemer syndrome Is a True Congenital microcephaly Inferred relationship Some
Autosomal recessive primary microcephaly Is a True Congenital microcephaly Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Congenital microcephaly Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Congenital microcephaly Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Lowry Wood syndrome Is a True Congenital microcephaly Inferred relationship Some
Goldberg Shprintzen megacolon syndrome Is a True Congenital microcephaly Inferred relationship Some
Filippi syndrome Is a True Congenital microcephaly Inferred relationship Some
Hydromicrocephaly Is a True Congenital microcephaly Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Congenital microcephaly Inferred relationship Some
Hall Riggs syndrome Is a True Congenital microcephaly Inferred relationship Some
Jawad syndrome Is a True Congenital microcephaly Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalic primordial dwarfism Alazami type Is a True Congenital microcephaly Inferred relationship Some
Microcephalic primordial dwarfism Dauber type Is a True Congenital microcephaly Inferred relationship Some
Lowry MacLean syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a True Congenital microcephaly Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Congenital microcephaly Inferred relationship Some
Microcephalic primordial dwarfism Montreal type Is a True Congenital microcephaly Inferred relationship Some
Microcephaly cardiomyopathy syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly cleft palate syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalic primordial dwarfism Toriello type Is a True Congenital microcephaly Inferred relationship Some
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a True Congenital microcephaly Inferred relationship Some
Microcephaly with cervical spine fusion anomaly Is a True Congenital microcephaly Inferred relationship Some
Seemanova Lesny syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly with albinism and digital anomaly syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly with cardiac defect and lung malsegmentation syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalus, brain defect, spasticity, hypernatraemia syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Congenital microcephaly Inferred relationship Some
Mikati Najjar Sahli syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a True Congenital microcephaly Inferred relationship Some
Say Barber Miller syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalus, lymphoedema, chorioretinopathy syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly with simplified gyral pattern Is a True Congenital microcephaly Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome Is a True Congenital microcephaly Inferred relationship Some
MMEP syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a True Congenital microcephaly Inferred relationship Some
Neu-Laxova syndrome Is a True Congenital microcephaly Inferred relationship Some
Nijmegen breakage syndrome-like disorder Is a True Congenital microcephaly Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Congenital microcephaly Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type Is a True Congenital microcephaly Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Congenital microcephaly Inferred relationship Some
Oculo-palato-cerebral syndrome Is a True Congenital microcephaly Inferred relationship Some
MacDermot Winter syndrome Is a True Congenital microcephaly Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Congenital microcephaly Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Congenital microcephaly Inferred relationship Some
Seckel syndrome Is a True Congenital microcephaly Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Congenital microcephaly Inferred relationship Some
Pseudoprogeria syndrome Is a True Congenital microcephaly Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Congenital microcephaly Inferred relationship Some
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Congenital microcephaly Inferred relationship Some
Severe X-linked intellectual disability Gustavson type Is a True Congenital microcephaly Inferred relationship Some
TELO2-related intellectual disability, neurodevelopmental disorder Is a True Congenital microcephaly Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalic cortical malformations, short stature due to RTTN deficiency Is a True Congenital microcephaly Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II Is a True Congenital microcephaly Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Congenital microcephaly Inferred relationship Some
RNF13-related severe early-onset epileptic encephalopathy Is a True Congenital microcephaly Inferred relationship Some
19p13.3 microduplication syndrome Is a True Congenital microcephaly Inferred relationship Some
DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Congenital microcephaly Inferred relationship Some
NDE1-related microhydranencephaly Is a True Congenital microcephaly Inferred relationship Some
Cerebellar-facial-dental syndrome Is a True Congenital microcephaly Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Congenital microcephaly Inferred relationship Some

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start