FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.13  |  FHIR Version n/a  User: [n/a]

1829003: Microcephalus (disorder)


    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    4159010 Microcephalus en Synonym Active Case insensitive SNOMED CT core
    4160017 Microcephaly en Synonym Active Case insensitive SNOMED CT core
    4161018 Micrencephaly en Synonym Active Case insensitive SNOMED CT core
    4162013 Nanocephaly en Synonym Active Case insensitive SNOMED CT core
    745690018 Microcephalus (disorder) en Fully specified name Active Case insensitive SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Microcephalus Is a Encephalopathy false Inferred relationship Some
    Microcephalus Is a Abnormality of neurogenesis false Inferred relationship Some
    Microcephalus Associated morphology Congenital smallness false Inferred relationship Some 1
    Microcephalus Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Some
    Microcephalus Finding site Entire brain false Inferred relationship Some 1
    Microcephalus Associated morphology Congenital smallness false Inferred relationship Some 2
    Microcephalus Finding site Brain structure false Inferred relationship Some 2
    Microcephalus Occurrence Congenital false Inferred relationship Some
    Microcephalus Associated morphology Congenital smallness false Inferred relationship Some
    Microcephalus Finding site Brain structure false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Jawad syndrome Is a False Microcephalus Inferred relationship Some
    THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Is a False Microcephalus Inferred relationship Some
    Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a False Microcephalus Inferred relationship Some
    Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Is a False Microcephalus Inferred relationship Some
    Autosomal dominant primary microcephaly Is a False Microcephalus Inferred relationship Some
    Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Is a False Microcephalus Inferred relationship Some
    Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a False Microcephalus Inferred relationship Some
    Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Is a False Microcephalus Inferred relationship Some
    Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a False Microcephalus Inferred relationship Some
    Reduction anomaly of hypothalamus Is a False Microcephalus Inferred relationship Some
    Seckel syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly with simplified gyral pattern Is a False Microcephalus Inferred relationship Some
    Microlissencephaly Is a False Microcephalus Inferred relationship Some
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a False Microcephalus Inferred relationship Some
    Microcephalic osteodysplastic dysplasia Is a False Microcephalus Inferred relationship Some
    Neu-Laxova syndrome Is a False Microcephalus Inferred relationship Some
    Hydromicrocephaly Is a False Microcephalus Inferred relationship Some
    Fetal microcephaly Is a False Microcephalus Inferred relationship Some
    Micrencephaly Is a False Microcephalus Inferred relationship Some
    Microcephalus NOS Is a False Microcephalus Inferred relationship Some
    Amish lethal microcephaly Is a False Microcephalus Inferred relationship Some
    Microcephaly-capillary malformation syndrome Is a False Microcephalus Inferred relationship Some
    Family history of microcephaly Associated finding False Microcephalus Inferred relationship Some 1
    Microgyria Is a False Microcephalus Inferred relationship Some
    MMEP syndrome Is a False Microcephalus Inferred relationship Some
    MacDermot Winter syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly with cervical spine fusion anomaly Is a False Microcephalus Inferred relationship Some
    Microcephalic primordial dwarfism Toriello type Is a False Microcephalus Inferred relationship Some
    Seemanova Lesny syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly with deafness and intellectual disability syndrome Is a False Microcephalus Inferred relationship Some
    Autosomal recessive primary microcephaly Is a False Microcephalus Inferred relationship Some
    Achalasia microcephaly syndrome Is a False Microcephalus Inferred relationship Some
    Radioulnar synostosis with microcephaly and scoliosis syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly with albinism and digital anomaly syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly with brachydactyly and kyphoscoliosis syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly with cardiac defect and lung malsegmentation syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly cardiomyopathy syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly cleft palate syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Is a False Microcephalus Inferred relationship Some
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Microcephalus Inferred relationship Some
    Anonychia with microcephaly syndrome Is a False Microcephalus Inferred relationship Some
    Aphalangy and syndactyly with microcephaly syndrome Is a False Microcephalus Inferred relationship Some
    Filippi syndrome Is a False Microcephalus Inferred relationship Some
    Hall Riggs syndrome Is a False Microcephalus Inferred relationship Some
    Goldberg Shprintzen megacolon syndrome Is a False Microcephalus Inferred relationship Some
    Say Barber Miller syndrome Is a False Microcephalus Inferred relationship Some
    Lowry MacLean syndrome Is a False Microcephalus Inferred relationship Some
    Lowry Wood syndrome Is a False Microcephalus Inferred relationship Some
    Oculo-palato-cerebral syndrome Is a False Microcephalus Inferred relationship Some
    Oculocerebrofacial syndrome Kaufman type Is a False Microcephalus Inferred relationship Some
    Congenital intrauterine infection-like syndrome Is a False Microcephalus Inferred relationship Some
    Hennekam Beemer syndrome Is a False Microcephalus Inferred relationship Some
    Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a False Microcephalus Inferred relationship Some
    Severe X-linked intellectual disability Gustavson type Is a False Microcephalus Inferred relationship Some
    Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly, seizure, intellectual disability, heart disease syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalic osteodysplastic dysplasia Saul Wilson type Is a False Microcephalus Inferred relationship Some
    Renier Gabreels Jasper syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalic primordial dwarfism due to ZNF335 deficiency Is a False Microcephalus Inferred relationship Some
    Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Microcephalus Inferred relationship Some
    Epilepsy, microcephaly, skeletal dysplasia syndrome Is a False Microcephalus Inferred relationship Some
    Stimmler syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a False Microcephalus Inferred relationship Some
    Pseudoprogeria syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalus, digital anomaly, intellectual disability syndrome Is a False Microcephalus Inferred relationship Some
    Mikati Najjar Sahli syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalus, lymphoedema, chorioretinopathy syndrome Is a False Microcephalus Inferred relationship Some
    3-phosphoglycerate dehydrogenase deficiency infantile form Is a False Microcephalus Inferred relationship Some
    Deficiency of leukotriene C4 synthase Is a False Microcephalus Inferred relationship Some
    Benign autosomal dominant microcephaly Is a False Microcephalus Inferred relationship Some
    Secondary microcephaly Is a False Microcephalus Inferred relationship Some
    Primary microcephaly Is a False Microcephalus Inferred relationship Some
    Cleft palate, large ears, small head syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a False Microcephalus Inferred relationship Some
    Oro-facial digital syndrome type 14 Is a False Microcephalus Inferred relationship Some
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalic primordial dwarfism Montreal type Is a False Microcephalus Inferred relationship Some
    Nijmegen breakage syndrome-like disorder Is a False Microcephalus Inferred relationship Some
    Microcephalic primordial dwarfism Alazami type Is a False Microcephalus Inferred relationship Some
    Autosomal recessive chorioretinopathy and microcephaly syndrome Is a False Microcephalus Inferred relationship Some
    Microcephalic primordial dwarfism Dauber type Is a False Microcephalus Inferred relationship Some
    Microcephalus, brain defect, spasticity, hypernatraemia syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly, thin corpus callosum, intellectual disability syndrome Is a False Microcephalus Inferred relationship Some
    Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False Microcephalus Inferred relationship Some
    Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Microcephalus Inferred relationship Some
    Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Is a False Microcephalus Inferred relationship Some
    X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False Microcephalus Inferred relationship Some
    Severe neonatal onset encephalopathy with microcephaly Is a False Microcephalus Inferred relationship Some

    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set

    Back to Start