FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
    4159010 Microcephalus en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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 sensitive (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 sensitive (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 Only initial character 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
    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 Existential restriction modifier (core metadata concept)
    microcéphalie Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
    microcéphalie Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept)
    microcéphalie Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept)
    microcéphalie Is a Disorder of brain false Inferred relationship Existential restriction modifier (core metadata concept)
    microcéphalie Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 1
    microcéphalie Is a Congenital and developmental anomalies of the nervous system false Inferred relationship Existential restriction modifier (core metadata concept)
    microcéphalie Finding site Entire brain false Inferred relationship Existential restriction modifier (core metadata concept) 1
    microcéphalie Associated morphology Congenital smallness false Inferred relationship Existential restriction modifier (core metadata concept) 2
    microcéphalie Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
    Inbound Relationships Type Active Source Characteristic Refinability Group
    microcéphalie autosomique dominante bénigne Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Secondary microcephaly Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    microcéphalie primitive Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Neu-Laxova syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Hydromicrocephaly (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Micrencephaly Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus NOS Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    dysplasie ostéodysplasique microcéphalique type Saul-Wilson Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Fetal microcephaly (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Amish lethal microcephaly (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly-capillary malformation syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Family history of microcephaly (situation) Associated finding False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microgyria Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalic primordial dwarfism Toriello type Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus microcornea syndrome of Seemanova type (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Achalasia microcephaly syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Radioulnar synostosis with microcephaly and scoliosis syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus cleft palate syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Filippi syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Hall Riggs syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Goldberg Shprintzen megacolon syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Lowry MacLean syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Oculocerebrofacial syndrome Kaufman type Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Severe X-linked intellectual disability Gustavson type (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly, seizure, intellectual disability, heart disease syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Renier Gabreels Jasper syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalic primordial dwarfism due to ZNF335 deficiency Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalic osteodysplastic primordial dwarfism types I and III Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Epilepsy, microcephaly, skeletal dysplasia syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Pseudoprogeria syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, digital anomaly, intellectual disability syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, lymphoedema, chorioretinopathy syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Deficiency of leukotriene C4 synthase Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Cleft palate, large ears, small head syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Oro-facial digital syndrome type 14 (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalic primordial dwarfism Montreal type Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Nijmegen breakage syndrome-like disorder Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalic primordial dwarfism Alazami type Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalic primordial dwarfism Dauber type Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephalus, brain defect, spasticity, hypernatremia syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Severe neonatal onset encephalopathy with microcephaly Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Jawad syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Reduction anomaly of hypothalamus Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Seckel syndrome Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microcephaly with simplified gyral pattern (disorder) Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)
    Microlissencephaly Is a False microcéphalie Inferred relationship Existential restriction modifier (core metadata concept)

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    POSSIBLY EQUIVALENT TO association reference set

    Back to Start