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

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    This concept is not in any reference sets

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