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

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