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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Cerebrofacioarticular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Oro-facial digital syndrome type 12 Associated morphology False Developmental abnormality Inferred relationship Some 2
    Oro-facial digital syndrome type 12 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Oro-facial digital syndrome type 12 Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oro-facial digital syndrome type 12 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Oro-facial digital syndrome type 12 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Neonatal Marfan syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Neonatal Marfan syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Keipert syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Oro-facial digital syndrome type 13 Associated morphology False Developmental abnormality Inferred relationship Some 2
    Oro-facial digital syndrome type 13 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Oro-facial digital syndrome type 13 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Oro-facial digital syndrome type 13 Associated morphology False Developmental abnormality Inferred relationship Some 1
    Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Craniofaciofrontodigital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Maternal hyperthermia induced birth defect Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oro-facial digital syndrome type 14 Associated morphology False Developmental abnormality Inferred relationship Some 2
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier Associated morphology False Developmental abnormality Inferred relationship Some 2
    Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Macrocephaly and developmental delay syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Keipert syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Curly hair, acral keratoderma, caries syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Craniodigital syndrome and intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Dyssegmental dysplasia Silverman Handmaker type Associated morphology False Developmental abnormality Inferred relationship Some 2
    Intellectual disability, myopathy, short stature, endocrine defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Familial progressive hyperpigmentation and hypopigmentation of skin Associated morphology False Developmental abnormality Inferred relationship Some 1
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Odonto onycho dysplasia with alopecia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Orofaciodigital syndrome type 11 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Intellectual disability, brachydactyly, Pierre Robin syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Microdactyly Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital deformity of left lower limb Associated morphology False Developmental abnormality Inferred relationship Some 1
    Bilateral congenital deformity of lower limbs Associated morphology False Developmental abnormality Inferred relationship Some 1
    Bilateral congenital deformity of lower limbs Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bilateral congenital deformity fingers Associated morphology False Developmental abnormality Inferred relationship Some 1
    Bilateral congenital deformity fingers Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital deformity of right finger Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital deformity of right upper limb Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital deformity of left finger Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital deformity of right lower limb Associated morphology False Developmental abnormality Inferred relationship Some 1
    Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital anomaly of cardiac chamber Associated morphology False Developmental abnormality Inferred relationship Some 1
    Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Associated morphology False Developmental abnormality Inferred relationship Some 2
    Alstrom syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Angioosteohypotrophic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Microcephalic primordial dwarfism Montreal type Associated morphology False Developmental abnormality Inferred relationship Some 1
    Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Brachydactyly, mesomelia, intellectual disability, heart defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Axial mesodermal dysplasia spectrum Associated morphology False Developmental abnormality Inferred relationship Some 1
    Incomplete ossification of ilium Associated morphology False Developmental abnormality Inferred relationship Some 1
    Incomplete ossification of ischium Associated morphology False Developmental abnormality Inferred relationship Some 1
    Incomplete ossification of pubis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Lack of ossification of pubis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Incomplete ossification Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pure gonadal dysgenesis 46,XX Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pure gonadal dysgenesis 46,XY Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pure gonadal dysgenesis 46,XY Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pure gonadal dysgenesis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pure gonadal dysgenesis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Retro-oesophageal aortic arch Associated morphology False Developmental abnormality Inferred relationship Some 4
    Lack of ossification of ischium Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital left vesicoureterorenal reflux Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital left vesicoureterorenal reflux Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital right vesicoureterorenal reflux Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital right vesicoureterorenal reflux Associated morphology False Developmental abnormality Inferred relationship Some 1
    Supernumerary calcaneus Associated morphology False Developmental abnormality Inferred relationship Some
    Supernumerary forepaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Supernumerary liver lobe Associated morphology False Developmental abnormality Inferred relationship Some 1
    Supernumerary metatarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Supernumerary tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    True generalised microdontia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Unilateral acheiria Associated morphology False Developmental abnormality Inferred relationship Some
    Unilateral congenital absence of foot Associated morphology False Developmental abnormality Inferred relationship Some
    Hartsfield syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital claw toe Associated morphology False Developmental abnormality Inferred relationship Some
    Nijmegen breakage syndrome-like disorder Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital bronchomalacia Associated morphology False Developmental abnormality Inferred relationship Some 1
    Neuhauser anomaly Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital myelin deficiency of the optic disc Associated morphology False Developmental abnormality Inferred relationship Some 1
    Persistent pupillary membranes Associated morphology False Developmental abnormality Inferred relationship Some 2
    Epiphyseal dysplasia, hearing loss, dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Trichoodontoonychial dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 1
    Trichoodontoonychial dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Trichoodontoonychial dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2

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