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1829003: Microcephalus (disorder)

    Status: retired, Not 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
    4159010 Microcephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    4160017 Microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    4161018 Micrencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    4162013 Nanocephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    745690018 Microcephalus (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    194841000077112 microcéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    microcéphalie Is a Abnormality of neurogenesis false Inferred relationship Some
    microcéphalie Occurrence Congenital false Inferred relationship Some
    microcéphalie Associated morphology Congenital smallness false Inferred relationship Some
    microcéphalie Finding site Brain structure false Inferred relationship Some
    microcéphalie Is a Disorder of brain (disorder) false Inferred relationship Some
    microcéphalie Associated morphology Congenital smallness false Inferred relationship Some 1
    microcéphalie Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Some
    microcéphalie Finding site Entire brain false Inferred relationship Some 1
    microcéphalie Associated morphology Congenital smallness false Inferred relationship Some 2
    microcéphalie Finding site Brain structure false Inferred relationship Some 2
    Inbound Relationships Type Active Source Characteristic Refinability Group
    microcéphalie autosomique dominante bénigne Is a False microcéphalie Inferred relationship Some
    Secondary microcephaly Is a False microcéphalie Inferred relationship Some
    microcéphalie primitive Is a False microcéphalie Inferred relationship Some
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a False microcéphalie Inferred relationship Some
    Neu-Laxova syndrome Is a False microcéphalie Inferred relationship Some
    Hydromicrocephaly Is a False microcéphalie Inferred relationship Some
    Micrencephaly Is a False microcéphalie Inferred relationship Some
    Microcephalus NOS Is a False microcéphalie Inferred relationship Some
    dysplasie ostéodysplasique microcéphalique type Saul-Wilson Is a False microcéphalie Inferred relationship Some
    Fetal microcephaly (disorder) Is a False microcéphalie Inferred relationship Some
    Amish lethal microcephaly (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephaly-capillary malformation syndrome Is a False microcéphalie Inferred relationship Some
    Family history of microcephaly Associated finding False microcéphalie Inferred relationship Some 1
    Microgyria Is a False microcéphalie Inferred relationship Some
    Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalic primordial dwarfism of Toriello type (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus microcornea syndrome of Seemanova type (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Autosomal recessive primary microcephaly (disorder) Is a False microcéphalie Inferred relationship Some
    Achalasia microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus with albinism and digital anomaly syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus cardiomyopathy syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus cleft palate syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Hadziselimovic syndrome Is a False microcéphalie Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False microcéphalie Inferred relationship Some
    Anonychia with microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Filippi syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Hall Riggs syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Goldberg Shprintzen megacolon syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Lowry MacLean syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Oculopalatocerebral syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Oculocerebrofacial syndrome Kaufman type (disorder) Is a False microcéphalie Inferred relationship Some
    Congenital intrauterine infection-like syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Severe X-linked intellectual disability Gustavson type (disorder) Is a False microcéphalie Inferred relationship Some
    Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Is a False microcéphalie Inferred relationship Some
    Renier Gabreels Jasper syndrome Is a False microcéphalie Inferred relationship Some
    Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Is a False microcéphalie Inferred relationship Some
    Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Stimmler syndrome Is a False microcéphalie Inferred relationship Some
    Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Pseudoprogeria syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus, digital anomaly, intellectual disability syndrome Is a False microcéphalie Inferred relationship Some
    Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalus, lymphedema, chorioretinopathy syndrome Is a False microcéphalie Inferred relationship Some
    3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a False microcéphalie Inferred relationship Some
    Deficiency of leukotriene C4 synthase (disorder) Is a False microcéphalie Inferred relationship Some
    Cleft palate, large ears, small head syndrome Is a False microcéphalie Inferred relationship Some
    Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a False microcéphalie Inferred relationship Some
    Oro-facial digital syndrome type 14 Is a False microcéphalie Inferred relationship Some
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a False microcéphalie Inferred relationship Some
    Microcephalic primordial dwarfism Montreal type Is a False microcéphalie Inferred relationship Some
    Nijmegen breakage syndrome-like disorder (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalic primordial dwarfism Alazami type (disorder) Is a False microcéphalie Inferred relationship Some
    Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephalic primordial dwarfism Dauber type Is a False microcéphalie Inferred relationship Some
    Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False microcéphalie Inferred relationship Some
    Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Severe neonatal onset encephalopathy with microcephaly (disorder) Is a False microcéphalie Inferred relationship Some
    Jawad syndrome Is a False microcéphalie Inferred relationship Some
    THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a False microcéphalie Inferred relationship Some
    Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a False microcéphalie Inferred relationship Some
    Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Autosomal dominant primary microcephaly Is a False microcéphalie Inferred relationship Some
    Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a False microcéphalie Inferred relationship Some
    Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a False microcéphalie Inferred relationship Some
    Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a False microcéphalie Inferred relationship Some
    Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a False microcéphalie Inferred relationship Some
    Reduction anomaly of hypothalamus Is a False microcéphalie Inferred relationship Some
    Seckel syndrome Is a False microcéphalie Inferred relationship Some
    Microcephaly with simplified gyral pattern Is a False microcéphalie Inferred relationship Some
    Microlissencephaly Is a False microcéphalie Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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