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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    190336012 Developmental malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    190337015 Developmental defect en Synonym Active Entire term case insensitive SNOMED CT core module
    190338013 Dysgenesis en Synonym Active Entire term case insensitive SNOMED CT core module
    190339017 Anomalous formation en Synonym Active Entire term case insensitive SNOMED CT core module
    190340015 Abnormal development en Synonym Active Entire term case insensitive SNOMED CT core module
    190341016 Malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module
    1208681014 Developmental abnormality en Synonym Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Potter sequence cleft lip and palate cardiopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Potter sequence cleft lip and palate cardiopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Familial hypospadias of penis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Multicentric osteolysis nodulosis arthropathy spectrum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Multicentric osteolysis nodulosis arthropathy spectrum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Syndromic recessive X-linked ichthyosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Trisomy 10p Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Trisomy 10p Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Short stature with craniofacial anomalies and genital hypoplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Microcephaly with deafness and intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Deafness with cataract and skeletal anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Shprintzen Goldberg omphalocele syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 8
    Shprintzen Goldberg omphalocele syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 10
    Trisomy 17p Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Biliary atresia with splenic malformation syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Central serous retinopathy with pit of optic disc Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Deafness with malformation of ear and facial palsy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Keratoderma hereditarium mutilans with ichthyosis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Isolated congenital alacrima Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Koolen De Vries syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Punctate palmoplantar keratoderma type 1 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hereditary palmoplantar keratoderma Gamborg Nielsen type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Syndromic hypoplasia of orbital border Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    X-linked reticulate pigmentary disorder with systemic manifestation syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Craniofacial digital and genital anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Craniofacial digital and genital anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    X-linked lissencephaly with agenesis of corpus callosum and genital anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lissencephaly syndrome Norman Roberts type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Cooks syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Metatarsus adductus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Talipes calcaneovarus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Craniofacial digital and genital anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Lissencephaly syndrome Norman Roberts type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Solitary aortic trunk with pulmonary atresia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Autosomal dominant centronuclear myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Epidermolysis bullosa simplex due to plakophilin deficiency Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Epidermolysis bullosa simplex with circinate migratory erythema Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Schisis association syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Enlarged parietal foramina Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Partial defect of atrioventricular canal Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Partial defect of atrioventricular canal Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Fetal iodine syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Wolf Hirschhorn syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Camptodactyly with joint contracture and facial skeletal defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Congenital suprabulbar paresis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Epidermolysis bullosa simplex co-occurrent with pyloric atresia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Camptodactyly with joint contracture and facial skeletal defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Unilateral polymicrogyria Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital heart defect with round face and developmental delay syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital heart defect with round face and developmental delay syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Cranio-cerebello-cardiac dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Cranio-cerebello-cardiac dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Cranio-cerebello-cardiac dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Cranio-cerebello-cardiac dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Bethlem myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Hydrocephalus with cleft palate and joint contracture syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 8
    Congenital abnormal retraction of eyelid Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Familial median cleft of upper and lower lip Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Hydrocephalus with cleft palate and joint contracture syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 10
    Annular epidermolytic ichthyosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 9 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Oro-facial digital syndrome type 9 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 8
    Oro-facial digital syndrome type 9 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 9
    Oro-facial digital syndrome type 11 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 9
    Oro-facial digital syndrome type 11 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 10
    Oro-facial digital syndrome type 11 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 11
    Isolated cryptophthalmos Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Lissencephaly type 3 metacarpal bone dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Oro-facial digital syndrome type 11 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 12
    Mammary digital nail syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Oro-facial digital syndrome type 9 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Autosomal dominant limb girdle muscular dystrophy type 1B Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Zellweger-like syndrome without peroxisomal anomaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Seemanova type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Syndromic X-linked intellectual disability type 11 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Siderius type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Stevenson type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    X-linked intellectual disability Stevenson type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    X-linked intellectual disability Stocco Dos Santos type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Stoll type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Pai type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Miles Carpenter type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Armfield type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    X-linked intellectual disability Abidi type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Pallister W syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    DK phocomelia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Carpenter Waziri syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Carpenter Waziri syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lissencephaly due to tubulin alpha 1A mutation Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    WT limb blood syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    14q11.2 microdeletion syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5

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