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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
    Cylindrical spirals myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Branchiootic syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Laing early-onset distal myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Intellectual disability Birk-Barel type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital muscular dystrophy type 1B Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital myopathy with internal nuclei and atypical cores Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Cryptorchidism, arachnodactyly, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    King Denborough syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Autosomal recessive myogenic arthrogryposis multiplex congenita Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Otofaciocervical syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Otofaciocervical syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Connective tissue disorder due to lysyl hydroxylase-3 deficiency 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 4
    Oro-facial digital syndrome type 11 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Branchiootic syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Larsen-like syndrome beta-1,3-glucuronyltransferase 3 type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Short stature, wormian bones, dextrocardia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Spina bifida and hypospadias syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Spina bifida and hypospadias syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 8 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Velofacioskeletal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Colobomatous microphthalmia, rhizomelic dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Wooly hair with palmoplantar keratoderma syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Autosomal recessive myogenic arthrogryposis multiplex congenita Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 10 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Wiedemann Steiner syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Leukonychia totalis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Prelingual non-syndromic genetic deafness Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oculoauricular syndrome Schorderet type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 1 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 1 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Oro-facial digital syndrome type 1 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Oro-facial digital syndrome type 5 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    King Denborough syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Postlingual non-syndromic genetic deafness Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Cerebrofacioarticular syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Neonatal Marfan syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Neonatal Marfan syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Keipert syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Craniofaciofrontodigital syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Birth defect due to maternal hyperthermia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Macrocephaly and developmental delay syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Keipert syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Curly hair, acral keratoderma, caries syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Craniodigital syndrome and intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Dyssegmental dysplasia Silverman Handmaker type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Intellectual disability, myopathy, short stature, endocrine defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Familial progressive hyperpigmentation and hypopigmentation of skin Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Oro-facial digital syndrome type 11 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Intellectual disability, brachydactyly, Pierre Robin syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital deformity of left lower limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital deformity of bilateral lower limbs Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital deformity of bilateral lower limbs Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2

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