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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    1208681014 Developmental abnormality en Synonym Active Case insensitive SNOMED CT core
    183282017 Developmental anomaly en Synonym Active Case insensitive SNOMED CT core
    190336012 Developmental malformation en Synonym Active Case insensitive SNOMED CT core
    190337015 Developmental defect en Synonym Active Case insensitive SNOMED CT core
    190338013 Dysgenesis en Synonym Active Case insensitive SNOMED CT core
    190339017 Anomalous formation en Synonym Active Case insensitive SNOMED CT core
    190340015 Abnormal development en Synonym Active Case insensitive SNOMED CT core
    190341016 Malformation en Synonym Active Case insensitive SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Xeroderma pigmentosum and Cockayne syndrome complex Associated morphology False Developmental abnormality Inferred relationship Some 4
    Naxos disease Associated morphology False Developmental abnormality Inferred relationship Some 1
    8q22.1 microdeletion syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Absent thumb with short stature and immunodeficiency syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Wilson Turner syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Ulbright Hodes syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Van den Ende-Gupta syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Trichodysplasia with amelogenesis imperfecta syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Tel Hashomer camptodactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Trigonocephaly with broad thumb syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Trigonocephaly with broad thumb syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Haim Munk syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    X-linked distal arthrogryposis multiplex congenita Associated morphology False Developmental abnormality Inferred relationship Some 3
    Ulbright Hodes syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ulna fibula ray defect and brachydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Trisomy Xq28 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Temtamy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Autosomal dominant limb girdle muscular dystrophy type 1A Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1C Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1D Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1E Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1F Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1G Associated morphology False Developmental abnormality Inferred relationship Some 2
    Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Van den Ende-Gupta syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Trichodysplasia with amelogenesis imperfecta syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Temtamy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Haim Munk syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Tel Hashomer camptodactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Taurodontia with absent teeth and sparse hair syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Timothy syndrome type 2 Associated morphology False Developmental abnormality Inferred relationship Some 2
    Tricho-retino-dento-digital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital anomaly of right ear Associated morphology False Developmental abnormality Inferred relationship Some 1
    Bilateral medullary sponge kidney Associated morphology False Developmental abnormality Inferred relationship Some 4
    Tapered teeth Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acro-oto-ocular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acro-oto-ocular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acropectoral syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acro-pectoro-renal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acro-pectoro-renal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acro-pectoro-renal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 5
    Acrorenal mandibular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Acrorenoocular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acrorenoocular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acrorenoocular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Acrocephalopolydactyly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acrocephalopolydactyly Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acrocraniofacial dysostosis Associated morphology False Developmental abnormality Inferred relationship Some 5
    Acromegaloid facial appearance syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acromegaloid facial appearance syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acropectorovertebral dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acropectorovertebral dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 5
    Acropectorovertebral dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 6
    Acrorenal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acrorenal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Camptodactyly syndrome Guadalajara type 1 Associated morphology False Developmental abnormality Inferred relationship Some 6
    Cardiac anomaly and heterotaxy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Cardiocranial syndrome Pfeiffer type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cardiospondylocarpofacial syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Anencephaly without rachischisis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acrocraniofacial dysostosis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Camptodactyly and tall stature with scoliosis and hearing loss syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Camptodactyly syndrome Guadalajara type 1 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital anomaly of left ear Associated morphology False Developmental abnormality Inferred relationship Some 1
    Trigonocephaly with bifid nose and acral anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Intractable diarrhoea with choanal atresia and eye anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Adducted thumbs and arthrogryposis syndrome Christian type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Adducted thumbs and arthrogryposis syndrome Christian type Associated morphology False Developmental abnormality Inferred relationship Some 6
    Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Aniridia and absent patella syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Arthrogryposis multiplex congenita and whistling face syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Athabaskan brainstem dysgenesis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bohring Opitz syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bohring Opitz syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Bosley Salih Alorainy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Brachytelephalangy, facial dysmorphism, Kallmann syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Brachytelephalangy, facial dysmorphism, Kallmann syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Braddock syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Camptodactyly syndrome Guadalajara type 2 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Cholestasis with pigmentary retinopathy and cleft palate syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    CHIME syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    CHIME syndrome Associated morphology False Developmental abnormality Inferred relationship Some 9
    Adducted thumbs and arthrogryposis syndrome Christian type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Arthrogryposis with renal dysfunction and cholestasis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Cardiomyopathy and renal anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cholestasis with pigmentary retinopathy and cleft palate syndrome Associated morphology False Developmental abnormality Inferred relationship Some 9
    Anophthalmia plus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Arachnodactyly with abnormal ossification and intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Arachnodactyly and intellectual disability with facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Arthrogryposis multiplex congenita and whistling face syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cerebro-facio-thoracic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3

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