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1148758003: Congenital microcephaly (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
4551756016 Congenital microcephalus en Synonym Active Entire term case insensitive SNOMED CT core module
4551757013 Congenital microcephaly (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4551758015 Congenital microcephaly en Synonym Active Entire term case insensitive SNOMED CT core module

82 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital microcephaly Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital microcephaly Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Congenital microcephaly Has interpretation Below reference range true Inferred relationship Existential restriction modifier 2
Congenital microcephaly Associated morphology Congenital smallness true Inferred relationship Existential restriction modifier 1
Congenital microcephaly Is a Congenital anomaly of head true Inferred relationship Existential restriction modifier
Congenital microcephaly Finding site Head structure true Inferred relationship Existential restriction modifier 1
Congenital microcephaly Is a Microcephaly true Inferred relationship Existential restriction modifier
Congenital microcephaly Interprets Birth head circumference true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of congenital microcephaly Associated finding True Congenital microcephaly Inferred relationship Existential restriction modifier 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Amish lethal microcephaly Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Achalasia microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
3-phosphoglycerate dehydrogenase deficiency infantile form Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Autosomal recessive chorioretinopathy and microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Anonychia with microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Aphalangy and syndactyly with microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Autosomal dominant primary microcephaly Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Congenital intrauterine infection-like syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Autosomal recessive primary microcephaly Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Goldberg Shprintzen megacolon syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Filippi syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Hydromicrocephaly Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Hall Riggs syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Jawad syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Alazami type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Dauber type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Lowry MacLean syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic dysplasia Saul Wilson type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism types I and III Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism Montreal type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus cardiomyopathy syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus cleft palate syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism of Toriello type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus co-occurrent with cervical spine fusion anomaly Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus microcornea syndrome of Seemanova type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus with cardiac defect and lung malsegmentation syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus, brain defect, spasticity, hypernatremia syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly with deafness and intellectual disability syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalus, lymphedema, chorioretinopathy syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly with simplified gyral pattern Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly, seizure, intellectual disability, heart disease syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly-capillary malformation syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Neu-Laxova syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Nijmegen breakage syndrome-like disorder Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Oculocerebrofacial syndrome Kaufman type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 14 Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Oculopalatocerebral syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Seckel syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Pseudoprogeria syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Severe X-linked intellectual disability Gustavson type Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic osteodysplastic primordial dwarfism type II Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism, insulin resistance syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Ring finger protein 13-related severe early-onset epileptic encephalopathy Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
19p13.3 microduplication syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Cerebellar-facial-dental syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Is a True Congenital microcephaly Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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