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1148758003: Congenital microcephaly (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4551756016 Congenital microcephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551757013 Congenital microcephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551758015 Congenital microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5399242013 A rare neurological disorder characterized by a 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399243015 A rare neurological disorder characterised by a 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 Entire term case sensitive (core metadata concept) SNOMED CT core

88 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital microcephaly (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital microcephaly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital microcephaly (disorder) Has interpretation Below reference range true Inferred relationship Some 2
Congenital microcephaly (disorder) Associated morphology Congenital smallness false Inferred relationship Some 1
Congenital microcephaly (disorder) Is a Congenital anomaly of head true Inferred relationship Some
Congenital microcephaly (disorder) Finding site Head structure true Inferred relationship Some 1
Congenital microcephaly (disorder) Is a Microcephaly (finding) true Inferred relationship Some
Congenital microcephaly (disorder) Interprets Birth head circumference true Inferred relationship Some 2
Congenital microcephaly (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of congenital microcephaly Associated finding True Congenital microcephaly (disorder) Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Congenital microcephaly (disorder) Inferred relationship Some
Amish lethal microcephaly (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Achalasia microcephaly syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Stimmler syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Autosomal dominant primary microcephaly Is a True Congenital microcephaly (disorder) Inferred relationship Some
Cleft palate, large ears, small head syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Congenital intrauterine infection-like syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Filippi syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Hydromicrocephaly Is a True Congenital microcephaly (disorder) Inferred relationship Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Hall Riggs syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Jawad syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism Dauber type Is a True Congenital microcephaly (disorder) Inferred relationship Some
Lowry MacLean syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism Montreal type Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Hadziselimovic syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus microcornea syndrome of Seemanova type (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus with albinism and digital anomaly syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, lymphedema, chorioretinopathy syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly with simplified gyral pattern Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly-capillary malformation syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Neu-Laxova syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Nijmegen breakage syndrome-like disorder (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Congenital microcephaly (disorder) Inferred relationship Some
Oculopalatocerebral syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Seckel syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Pseudoprogeria syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II Is a True Congenital microcephaly (disorder) Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
19p13.3 microduplication syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
NDE1-related microhydranencephaly Is a True Congenital microcephaly (disorder) Inferred relationship Some
Cerebellar-facial-dental syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Is a True Congenital microcephaly (disorder) Inferred relationship Some
Congenital pontocerebellar hypoplasia type 14 Is a True Congenital microcephaly (disorder) Inferred relationship Some
AMeD syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some
CIMDAG syndrome Is a True Congenital microcephaly (disorder) Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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