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

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