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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
    14q11.2 microdeletion syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Smith Fineman Myers syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Smith Fineman Myers syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Short stature Brussels type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 8
    X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Self-healing collodion baby (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Acral self-healing collodion baby (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Pyknoachondrogenesis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Shprintzen Goldberg craniosynostosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Pyknoachondrogenesis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Spinocerebellar ataxia type 34 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    BSG syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    BSG syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    BSG syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Pelviscapular dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Stapes ankylosis with broad thumb and toe syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Steatocystoma multiplex with natal tooth syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Hadziselimovic syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Hadziselimovic syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Lethal faciocardiomelic dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lethal faciocardiomelic dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Lethal omphalocele with cleft palate syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 10
    Stapes ankylosis with broad thumb and toe syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Hadziselimovic syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Microcephalus with albinism and digital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Lelis syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Late-onset junctional epidermolysis bullosa (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Cleft palate with short stature and vertebral anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 8
    Microcephalus with albinism and digital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 9
    Microcephalus cleft palate syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Disorder of sex development with intellectual disability syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cleft palate with short stature and vertebral anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Postaxial polydactyly type A (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Postaxial polydactyly type B (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Gingival fibromatosis with facial dysmorphism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    X-linked intellectual disability Cabezas type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    X-linked intellectual disability with plagiocephaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    X-linked mandibulofacial dysostosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    X-linked myopathy with excessive autophagy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Xeroderma pigmentosum and Cockayne syndrome complex (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Xeroderma pigmentosum and Cockayne syndrome complex (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Naxos disease Associated morphology False Developmental anomaly Inferred relationship Some 1
    8q22.1 microdeletion syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Absent thumb with short stature and immunodeficiency syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Wilson Turner syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Renal dysplasia with limb defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Van den Ende-Gupta syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Tel Hashomer camptodactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Trigonocephaly with broad thumb syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Trigonocephaly with broad thumb syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 8
    Haim Munk syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    X-linked distal arthrogryposis multiplex congenita (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Renal dysplasia with limb defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    trisomie chromosomique Xq28 Associated morphology False Developmental anomaly Inferred relationship Some 3
    Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Temtamy syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Autosomal dominant limb girdle muscular dystrophy type 1A (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    dystrophie musculaire des ceintures autosomique dominante type 1C Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1D (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1E (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1F (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1G (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Van den Ende-Gupta syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Temtamy syndrome Associated morphology False Developmental anomaly Inferred relationship Some 6
    Haim Munk syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology False Developmental anomaly Inferred relationship Some 7
    Tel Hashomer camptodactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Taurodontia with absent teeth and sparse hair syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Timothy syndrome type 2 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of right ear (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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