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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Some
    Developmental anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Cylindrical spirals myopathy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Branchiootic syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Laing early-onset distal myopathy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Intellectual disability Birk-Barel type Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital muscular dystrophy type 1B Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital myopathy with internal nuclei and atypical cores (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cryptorchidism, arachnodactyly, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    King Denborough syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Otofaciocervical syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Otofaciocervical syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Connective tissue disorder due to lysyl hydroxylase-3 deficiency Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oro-facial digital syndrome type 9 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oro-facial digital syndrome type 11 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Branchiootic syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Larsen-like syndrome B3GAT3 type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Larsen-like syndrome B3GAT3 type Associated morphology False Developmental anomaly Inferred relationship Some 3
    Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Short stature, wormian bones, dextrocardia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Spina bifida and hypospadias syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Spina bifida and hypospadias syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Some 1
    Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 8 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Velofacioskeletal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Wooly hair with palmoplantar keratoderma syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oro-facial digital syndrome type 10 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Wiedemann Steiner syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Leukonychia totalis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    White forelock with malformations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Joubert syndrome with orofaciodigital defect (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Prelingual non-syndromic genetic deafness (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oculoauricular syndrome Schorderet type Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oro-facial digital syndrome type 1 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 1 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oro-facial digital syndrome type 1 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oro-facial digital syndrome type 5 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    King Denborough syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Postlingual non-syndromic genetic deafness Associated morphology False Developmental anomaly Inferred relationship Some 1
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cerebrofacioarticular syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oro-facial digital syndrome type 12 Associated morphology False Developmental anomaly Inferred relationship Some 5
    Neonatal Marfan syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Neonatal Marfan syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Keipert syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oro-facial digital syndrome type 13 Associated morphology False Developmental anomaly Inferred relationship Some 1
    Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Craniofaciofrontodigital syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Birth defect due to maternal hyperthermia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oro-facial digital syndrome type 14 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Associated morphology False Developmental anomaly Inferred relationship Some 2
    Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Macrocephaly and developmental delay syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Keipert syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Curly hair, acral keratoderma, caries syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Craniodigital syndrome and intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Dyssegmental dysplasia Silverman Handmaker type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Intellectual disability, myopathy, short stature, endocrine defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Familial progressive hyper and hypopigmentation Associated morphology False Developmental anomaly Inferred relationship Some 1
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oro-facial digital syndrome type 11 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital deformity of left lower limb (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Bilateral congenital deformity of lower limbs Associated morphology False Developmental anomaly Inferred relationship Some 1
    Bilateral congenital deformity of lower limbs Associated morphology False Developmental anomaly Inferred relationship Some 2

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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