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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
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    anomalie du développement Is a anomalie congénitale false Inferred relationship Some
    anomalie du développement Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital anomaly of right ear (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Bilateral medullary sponge kidney (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Tapered teeth (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Acrootoocular syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Acrootoocular syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Acropectoral syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Acropectororenal dysplasia Associated morphology False anomalie du développement Inferred relationship Some 3
    Acropectororenal dysplasia Associated morphology False anomalie du développement Inferred relationship Some 4
    Acropectororenal dysplasia Associated morphology False anomalie du développement Inferred relationship Some 5
    Acrorenal mandibular syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Acrorenoocular syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Acrorenoocular syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Acrorenoocular syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Acrocephalopolydactyly (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Acrocephalopolydactyly (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Acrocraniofacial dysostosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Acromegaloid facial appearance syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Acromegaloid facial appearance syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Acropectorovertebral dysplasia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Acropectorovertebral dysplasia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Acropectorovertebral dysplasia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Acrorenal syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Acrorenal syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 8
    Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Cardiac anomaly and heterotaxy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Cardiocranial syndrome Pfeiffer type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Cardiospondylocarpofacial syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Anencephaly without rachischisis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Acrocraniofacial dysostosis (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital anomaly of left ear (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Trigonocephaly with bifid nose and acral anomaly syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Intractable diarrhea with choanal atresia and eye anomaly syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Aniridia and absent patella syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Anophthalmia and megalocornea with cardiopathy and skeletal anomalies syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Athabaskan brainstem dysgenesis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Bohring Opitz syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Bohring Opitz syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Bosley Salih Alorainy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Braddock syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Camptodactyly syndrome Guadalajara type 2 (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 9
    Adducted thumbs and arthrogryposis syndrome Christian type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Cardiomyopathy and renal anomaly syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Cholestasis with pigmentary retinopathy and cleft palate syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 9
    Anophthalmia plus syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Arachnodactyly and intellectual disability with facial dysmorphism syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Arthrogryposis multiplex congenita and whistling face syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 8
    Craniofacial ulnar renal syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 11
    Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False anomalie du développement Inferred relationship Some 6
    Craniosynostosis and intracranial calcification syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Craniosynostosis Boston type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Cystic leukoencephalopathy without megalencephaly (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Chondrodysplasia with disorder of sex development syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionizing radiation syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Cerebrooculonasal syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Cerebrooculonasal syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Ehlers-Danlos syndrome cardiac valvular type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Frank-Ter Haar syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Alport syndrome, intellectual disability, midface hypoplasia, elliptocytosis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Brain calcification Rajab type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Craniosynostosis Boston type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Amaurosis hypertrichosis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital bilateral internal tibial torsion Associated morphology False anomalie du développement Inferred relationship Some 3
    Craniofacial conodysplasia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Choroidal atrophy and alopecia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Associated morphology False anomalie du développement Inferred relationship Some 4
    Fibular dimelia diplopodia syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Filippi syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 7
    Craniofacial dyssynostosis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 4
    Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 6
    Chudley Lowry Hoar syndrome Associated morphology False anomalie du développement 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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