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

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