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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital smallness Is a Congenital growth alteration false Inferred relationship Some
    Congenital smallness Is a Growth alteration false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Reconstruction of microtia with flap (procedure) Direct morphology False Congenital smallness Inferred relationship Some 1
    Microphthalmos of right eye Associated morphology False Congenital smallness Inferred relationship Some 1
    Microphthalmos of left eye Associated morphology False Congenital smallness Inferred relationship Some 1
    Reconstruction of microtia with graft (procedure) Direct morphology False Congenital smallness Inferred relationship Some 2
    Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Associated morphology False Congenital smallness Inferred relationship Some 3
    Occipital pachygyria and polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
    Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Associated morphology False Congenital smallness Inferred relationship Some 4
    Reduction anomaly of hypothalamus Associated morphology False Congenital smallness Inferred relationship Some 1
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
    Seckel syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False Congenital smallness Inferred relationship Some 2
    Thrombocytopathy, asplenia and miosis (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
    Neu-Laxova syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
    Barber-Say syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
    Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
    Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
    Microcornea of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Microcornea of bilateral eyes (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
    Bilateral microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 1
    Bilateral microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 2
    Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Bilateral frontal polymicrogyria Associated morphology False Congenital smallness Inferred relationship Some 1
    Bilateral frontoparietal polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Bilateral generalized polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology False Congenital smallness Inferred relationship Some 1
    Bilateral frontoparietal polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
    Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology False Congenital smallness Inferred relationship Some 2
    Microcephaly with simplified gyral pattern Associated morphology False Congenital smallness Inferred relationship Some 1
    Microphthalmos due to branchio-oculo-facial syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
    Microlissencephaly Associated morphology False Congenital smallness Inferred relationship Some 1
    Microphthalmos due to Fryns syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Microphthalmos due to Delleman syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Micromelic dwarfism Fryn type Associated morphology False Congenital smallness Inferred relationship Some 1
    Congenital microcephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Stimmler syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
    Jawad syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
    Congenital microencephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
    Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
    Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
    Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology False Congenital smallness Inferred relationship Some 3
    X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
    Microcephalic osteodysplastic primordial dwarfism type II Associated morphology False Congenital smallness Inferred relationship Some 2
    Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    19p13.3 microduplication syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
    Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
    Isolated microspherophakia (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
    Microphthalmia, microtia, fetal akinesia syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
    Microphthalmia, microtia, fetal akinesia syndrome Associated morphology False Congenital smallness Inferred relationship Some 3
    Microphthalmia, microtia, fetal akinesia syndrome Associated morphology False Congenital smallness Inferred relationship Some 4
    Syndromic nanophthalmos due to Kenny-Caffey syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
    DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
    NDE1-related microhydranencephaly Associated morphology False Congenital smallness Inferred relationship Some 1
    Cerebellar-facial-dental syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
    Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Congenital cataract microcornea with corneal opacity Associated morphology False Congenital smallness Inferred relationship Some 2
    Short rib polydactyly syndrome type 5 Associated morphology False Congenital smallness Inferred relationship Some 2
    Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
    Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Associated morphology False Congenital smallness Inferred relationship Some 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 Some 1
    Congenital pontocerebellar hypoplasia type 14 Associated morphology False Congenital smallness Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    REPLACED BY association reference set (foundation metadata concept)

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