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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
    1208681014 Developmental abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    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
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    686791000077119 anomalie du développement (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name 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 abnormality est un(e) (attribut) structure anormale sur le plan morphologique false Inferred relationship Some
    Developmental abnormality est un(e) (attribut) Congenital anomaly false Inferred relationship Some

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

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    Reference Sets

    Canada English language reference set (foundation metadata concept)

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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