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41086002: Congenital smallness (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    68540011 Congenital smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    777834016 Congenital smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    68540011 Congenital smallness en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    68540011 Congenital smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    777834016 Congenital smallness (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    777834016 Congenital smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital smallness Is a Congenital growth alteration false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital smallness Is a Growth alteration false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Reconstruction of microtia with flap Direct morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microphthalmos of right eye Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microphthalmos of left eye Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Reconstruction of microtia with graft (procedure) Direct morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Occipital pachygyria and polymicrogyria Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    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. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Reduction anomaly of hypothalamus Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Seckel syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Diastrophic dysplasia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Thrombocytopathy, asplenia and miosis (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Neu-Laxova syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Barber-Say syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microcornea of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcornea of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Bilateral microphthalmos Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral microphthalmos Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral frontal polymicrogyria Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral frontoparietal polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral generalized polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral parasagittal parieto-occipital polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bilateral frontoparietal polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Bilateral parasagittal parieto-occipital polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephaly with simplified gyral pattern (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microphthalmos due to branchio-oculo-facial syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microlissencephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microphthalmos due to Fryns syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microphthalmos due to Delleman syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Micromelic dwarfism Fryn type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital microcephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Jawad syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital microencephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterised by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behaviour, and café-au-lait spots, among others. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalic osteodysplastic primordial dwarfism type II (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    19p13.3 microduplication syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Isolated microspherophakia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microphthalmia, microtia, fetal akinesia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microphthalmia, microtia, fetal akinesia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microphthalmia, microtia, fetal akinesia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Syndromic nanophthalmos due to Kenny-Caffey syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    NDE1-related microhydranencephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Cerebellar-facial-dental syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    A rare genetic eye disease characterised by congenital cataract, microcornea, and corneal opacity, resulting in severe visual impairment or blindness. Depending on the genetic background, other developmental ocular defects may also be present. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Short rib polydactyly syndrome type 5 Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    A rare primary bone dysplasia characterised by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital pontocerebellar hypoplasia type 14 Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1

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