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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
    Lethal hemolytic anemia and genital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Isotretinoin embryopathy-like syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Hypertelorism with microtia and facial clefting syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 10
    Macrocephaly, short stature, paraplegia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Karsch Neugebauer syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Hypogonadism with anosmia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Isolated anterior cervical hypertrichosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Klippel Trenaunay syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Johnson neuroectodermal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Kallman syndrome with heart disease (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oculopalatocerebral syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oculocerebrofacial syndrome Kaufman type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oculocerebrofacial syndrome Kaufman type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oculoosteocutaneous syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Book syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Bamforth Lazarus syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Bamforth Lazarus syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Catel Manzke syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Congenital hereditary facial paralysis with variable hearing loss syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Developmental anomaly Inferred relationship Some 8
    Oculotrichodysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oculogastrointestinal muscular dystrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Odonto-tricho-ungual-digito-palmar syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Matthew Wood syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Matthew Wood syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    DK phocomelia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Intellectual disability, craniofacial dysmorphism, hypogonadism, diabetes mellitus syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Intellectual disability, developmental delay, contracture syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Fuhrmann syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Galloway Mowat syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oro-facial digital syndrome type 10 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oro-facial digital syndrome type 10 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Oro-facial digital syndrome type 5 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oro-facial digital syndrome type 5 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Oro-facial digital syndrome type 8 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Oro-facial digital syndrome type 8 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Severe X-linked intellectual disability Gustavson type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Ackerman syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Auriculoocular anomaly and cleft lip syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Autism and facial port-wine stain syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Double uterus, hemivagina, renal agenesis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double uterus, hemivagina, renal agenesis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Duane anomaly, myopathy, scoliosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Dystrophic epidermolysis bullosa nails only (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Dystrophic epidermolysis bullosa nails only (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Meacham syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Meacham syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Meacham syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Toriello Carey syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Familial caudal dysgenesis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Laryngo-onycho-cutaneous syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Ectodermal dysplasia with blindness syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oro-facial digital syndrome type 10 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oro-facial digital syndrome type 5 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Oro-facial digital syndrome type 8 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Palmoplantar keratoderma Nagashima type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Perlman syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Auriculoocular anomaly and cleft lip syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Duane anomaly, myopathy, scoliosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ackerman syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital malformation of autonomic nervous system (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Palmoplantar keratoderma with deafness syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Aganglionosis of large intestine (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital developmental anomaly of cystic duct (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Gomez Lopez Hernandez syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Basal epidermolysis bullosa simplex (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast Direct morphology False Developmental anomaly Inferred relationship Some 2
    Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast Indirect morphology False Developmental anomaly Inferred relationship Some 3
    Endocrine-cerebro-osteodysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Endocrine-cerebro-osteodysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Endocrine-cerebro-osteodysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Faciocardiorenal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Fallot complex with intellectual disability and growth delay syndrome Associated morphology False Developmental anomaly Inferred relationship Some 9
    Epidermolysis bullosa simplex with muscular dystrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Faciocardiorenal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Familial multiple fibrofolliculoma Associated morphology False Developmental anomaly Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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