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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
    Embryopathy caused by retinoid (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cerebral gigantism jaw cysts syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Centripetalis recessive dystrophic epidermolysis bullosa (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Autosomal recessive faciodigitogenital syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Autosomal recessive faciodigitogenital syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Autosomal recessive faciodigitogenital syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital muscular dystrophy Paradas type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Bathing suit ichthyosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital enterocyte heparan sulfate deficiency (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Infundibulopelvic stenosis multicystic kidney syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Intellectual disability Buenos Aires type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Neurofaciodigitorenal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Neurofaciodigitorenal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Neurofaciodigitorenal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital sacral meningocele with conotruncal heart defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Congenital anomaly of descending thoracic aorta (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of abdominal aorta (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Compression of trachea and esophagus co-occurrent and due to congenital anomaly of aortic arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital venous malformation of skin (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cystic hygroma in fetus (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Keratinopathic ichthyosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Hereditary skin peeling syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Distal myopathy Welander type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Short rib polydactyly syndrome type I (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Suprabasal epidermolysis bullosa simplex (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Scalp defect postaxial polydactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Caudal appendage deafness syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Arthrogryposis hyperkeratosis syndrome lethal form (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 8
    Cataract, congenital heart disease, neural tube defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 9
    X-linked intellectual disability Nascimento type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Weaver Williams syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hemifacial microsomia with radial defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Autosomal recessive amelia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cleft lip retinopathy syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cyprus facial neuromusculoskeletal syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 8
    Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 11
    Congenital J shaped sella turcica (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital wide symphysis pubis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital club finger (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Common atrioventricular junction (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ichthyosis, oral and digital anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ichthyosis, oral and digital anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ichthyosis, oral and digital anomalies syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital cataract ichthyosis syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Spinocerebellar ataxia dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Charlie M syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Charlie M syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Charlie M syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Charlie M syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    German syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Epilepsy telangiectasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Spinocerebellar ataxia dysmorphism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 8
    Dysmorphism, pectus carinatum, joint laxity syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Dermatoleukodystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hemifacial hyperplasia strabismus syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Dysmorphism, short stature, deafness, disorder of sex development syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Dysmorphism, short stature, deafness, disorder of sex development syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Marfanoid habitus with autosomal recessive intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Absent tibia, polydactyly, arachnoid cyst syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    German syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Telecanthus, hypertelorism, strabismus, pes cavus syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Distal myopathy with posterior leg and anterior hand involvement (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Distal myopathy with early respiratory muscle involvement Associated morphology False Developmental anomaly Inferred relationship Some 3
    Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Van den Bosch syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Microcephalus, digital anomaly, intellectual disability syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    XY type gonadal dysgenesis with associated anomalies syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    46,XX disorder of sex development with skeletal anomalies syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    46,XX disorder of sex development with skeletal anomalies syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    46,XX disorder of sex development with anorectal anomalies syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Acral dystrophic epidermolysis bullosa (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Intermediate anorectal malformation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Ectodermal dysplasia trichoodontoonychial type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    SCARF syndrome Associated morphology False Developmental anomaly Inferred relationship Some 7
    SCARF syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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