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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
    Oro-facial digital syndrome type 12 Associated morphology False Developmental abnormality Inferred relationship Some 7
    Oro-facial digital syndrome type 14 Associated morphology False Developmental abnormality Inferred relationship Some 6
    Otofaciocervical syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital stenosis of aortic arch Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital stenosis of stomach Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital narrowed tail Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oro-facial digital syndrome type 13 Associated morphology False Developmental abnormality Inferred relationship Some 6
    Congenital short tail Associated morphology False Developmental abnormality Inferred relationship Some 1
    Renal hepatic pancreatic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital thickening of clavicle Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital thickening of femur Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of fibula Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of forepaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of hindpaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of humerus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of radius Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of talus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of tibia Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital thickening of ulna Associated morphology False Developmental abnormality Inferred relationship Some
    Generalised macrodontia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Oculopharyngodistal myopathy Associated morphology False Developmental abnormality Inferred relationship Some 4
    Holorachischisis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hypogonadism with anosmia Associated morphology False Developmental abnormality Inferred relationship Some 1
    Incomplete ossification of calcaneus Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of carpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of clavicle Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of femur Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of fibula Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of forepaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of hindpaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of humerus Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of metacarpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of metatarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of radius Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of talus Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of tibia Associated morphology False Developmental abnormality Inferred relationship Some
    Incomplete ossification of ulna Associated morphology False Developmental abnormality Inferred relationship Some
    Lack of ossification of calcaneus Associated morphology False Developmental abnormality Inferred relationship Some
    Lack of ossification of carpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Lack of ossification of clavicle Associated morphology False Developmental abnormality Inferred relationship Some
    Lack of ossification of femur Associated morphology False Developmental abnormality Inferred relationship Some
    Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Familial isolated trichomegaly Associated morphology False Developmental abnormality Inferred relationship Some 1
    Cylindrical spirals myopathy Associated morphology False Developmental abnormality Inferred relationship Some 1
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Branchiootic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Laing early-onset distal myopathy Associated morphology False Developmental abnormality Inferred relationship Some 2
    Intellectual disability Birk-Barel type Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital muscular dystrophy type 1B Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital myopathy with internal nuclei and atypical cores Associated morphology False Developmental abnormality Inferred relationship Some 1
    Cryptorchidism, arachnodactyly, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    King Denborough syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal recessive myogenic arthrogryposis multiplex congenita Associated morphology False Developmental abnormality Inferred relationship Some 4
    Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Otofaciocervical syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Otofaciocervical syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Connective tissue disorder due to lysyl hydroxylase-3 deficiency Associated morphology False Developmental abnormality Inferred relationship Some 1
    Orofaciodigital syndrome type 9 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Orofaciodigital syndrome type 11 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Branchiootic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Larsen-like syndrome B3GAT3 type Associated morphology False Developmental abnormality Inferred relationship Some 2
    Larsen-like syndrome B3GAT3 type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Short stature, wormian bones, dextrocardia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Spina bifida and hypospadias syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Spina bifida and hypospadias syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Oro-facial digital syndrome type 14 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Oro-facial digital syndrome type 14 Associated morphology False Developmental abnormality Inferred relationship Some 1
    Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Orofaciodigital syndrome type 8 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Velofacioskeletal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Colobomatous microphthalmia, rhizomelic dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Woolly hair with palmoplantar keratoderma syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal recessive myogenic arthrogryposis multiplex congenita Associated morphology False Developmental abnormality Inferred relationship Some 3
    Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Orofaciodigital syndrome type 10 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Verloove Vanhorick Brubakk syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Wiedemann Steiner syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Leukonychia totalis Associated morphology False Developmental abnormality Inferred relationship Some 1
    White forelock with malformations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    White forelock with malformations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    White forelock with malformations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    White forelock with malformations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Joubert syndrome with orofaciodigital defect Associated morphology False Developmental abnormality Inferred relationship Some 4
    Prelingual non-syndromic genetic deafness Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oculoauricular syndrome Schorderet type Associated morphology False Developmental abnormality Inferred relationship Some 1
    Oro-facial digital syndrome type 1 Associated morphology False Developmental abnormality Inferred relationship Some 2
    Oro-facial digital syndrome type 1 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Oro-facial digital syndrome type 1 Associated morphology False Developmental abnormality Inferred relationship Some 1
    Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal naevus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Orofaciodigital syndrome type 5 Associated morphology False Developmental abnormality Inferred relationship Some 3
    King Denborough syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Postlingual non-syndromic genetic deafness Associated morphology False Developmental abnormality Inferred relationship Some 1
    Facial dysmorphism, conductive hearing loss, heart defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4

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