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21390004: Developmental anomaly (morphologic abnormality)

    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
    183282017 Developmental anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190336012 Developmental malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190337015 Developmental defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190338013 Dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190339017 Anomalous formation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190340015 Abnormal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190341016 Malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208681014 Developmental abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64781000077117 anomalie du développement 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
    anomalie du développement Is a anomalie congénitale false Inferred relationship Some
    anomalie du développement Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Potter sequence cleft lip and palate cardiopathy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Familial hypospadias of penis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Multicentric osteolysis nodulosis arthropathy spectrum (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Syndromic recessive X-linked ichthyosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Trisomy 10p (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Trisomy 10p (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Deafness with cataract and skeletal anomaly syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 8
    Shprintzen Goldberg omphalocele syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 10
    Trisomy 17p (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Biliary atresia with splenic malformation syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Central serous retinopathy with pit of optic disc Associated morphology False anomalie du développement Inferred relationship Some 3
    Heide syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    Deafness with malformation of ear and facial palsy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Isolated congenital alacrima (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Koolen De Vries syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Punctate palmoplantar keratoderma type 1 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Syndromic hypoplasia of orbital border (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Harrod syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    Harrod syndrome Associated morphology False anomalie du développement Inferred relationship Some 7
    X-linked lissencephaly with abnormal genitalia syndrome Associated morphology False anomalie du développement Inferred relationship Some 5
    Lissencephaly syndrome Norman Roberts type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Cooks syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Metatarsus adductus Associated morphology False anomalie du développement Inferred relationship Some 2
    Talipes calcaneovarus Associated morphology False anomalie du développement Inferred relationship Some 1
    Harrod syndrome Associated morphology False anomalie du développement Inferred relationship Some 6
    Lissencephaly syndrome Norman Roberts type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Solitary aortic trunk with pulmonary atresia Associated morphology False anomalie du développement Inferred relationship Some 2
    Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Autosomal dominant centronuclear myopathy (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Epidermolysis bullosa simplex due to plakophilin deficiency (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Epidermolysis bullosa simplex with circinate migratory erythema (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Schisis association syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Enlarged parietal foramina (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Partial defect of atrioventricular canal (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Partial defect of atrioventricular canal (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Fetal iodine syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Wolf Hirschhorn syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Congenital suprabulbar paresis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Epidermolysis bullosa simplex with pyloric atresia Associated morphology False anomalie du développement Inferred relationship Some 6
    Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Unilateral polymicrogyria (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Sonoda syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Sonoda syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    3C syndrome Associated morphology False anomalie du développement Inferred relationship Some 4
    3C syndrome Associated morphology False anomalie du développement Inferred relationship Some 5
    3C syndrome Associated morphology False anomalie du développement Inferred relationship Some 6
    3C syndrome Associated morphology False anomalie du développement Inferred relationship Some 7
    Bethlem myopathy (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 8
    Congenital abnormal retraction of eyelid (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Familial median cleft of upper and lower lip (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Hydrocephalus with cleft palate and joint contracture syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 10
    Annular epidermolytic ichthyosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Oro-facial digital syndrome type 9 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Oro-facial digital syndrome type 9 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 8
    Oro-facial digital syndrome type 9 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 9
    Oro-facial digital syndrome type 11 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 9
    Oro-facial digital syndrome type 11 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 10
    Oro-facial digital syndrome type 11 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 11
    Isolated cryptophthalmos (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Oro-facial digital syndrome type 11 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 12
    Mammary digital nail syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Oro-facial digital syndrome type 9 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    dystrophie musculaire des ceintures autosomique dominante type 1B Associated morphology False anomalie du développement Inferred relationship Some 2
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Zellweger-like syndrome without peroxisomal anomaly (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Seemanova type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Syndromic X-linked intellectual disability type 11 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Siderius type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Stevenson type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    X-linked intellectual disability Stevenson type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    X-linked intellectual disability Stocco Dos Santos type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Stoll type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Pai type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Miles Carpenter type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Armfield type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    X-linked intellectual disability Abidi type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Pallister W syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    DK phocomelia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Carpenter Waziri syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Carpenter Waziri syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Lissencephaly due to tubulin alpha 1A mutation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    WT limb blood syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    14q11.2 microdeletion syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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