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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
    Congenital absence of calcaneus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of carpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of claw Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of forepaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of hindpaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of metacarpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of metatarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of tail Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital absence of talus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of paw Associated morphology False Developmental abnormality Inferred relationship Some
    Hereditary skin peeling syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Tetralogy of Fallot with pulmonary atresia and systemic-to-pulmonary collateral artery Associated morphology False Developmental abnormality Inferred relationship Some 12
    Congenital myopathy with myasthenic-like onset Associated morphology False Developmental abnormality Inferred relationship Some 1
    Connective tissue disorder due to lysyl hydroxylase-3 deficiency Associated morphology False Developmental abnormality Inferred relationship Some 2
    Craniofaciofrontodigital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital patent ductus arteriosus aneurysm Associated morphology False Developmental abnormality Inferred relationship Some 2
    Fetal akinesia, cerebral and retinal haemorrhage syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cerebrofacioarticular syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Facial dysmorphism, cleft palate, loose skin syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital muscular dystrophy with hyperlaxity Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Bilateral acheiria Associated morphology False Developmental abnormality Inferred relationship Some
    Bilateral congenital absence of feet Associated morphology False Developmental abnormality Inferred relationship Some
    Bilateral crossbite Associated morphology False Developmental abnormality Inferred relationship Some 3
    Buccal crossbite Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital bowing of tibia and/or fibula Associated morphology False Developmental abnormality Inferred relationship Some
    Ichthyosis prematurity syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Lethal multiple pterygium syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    X-linked lethal multiple pterygium syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lethal multiple pterygium syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Velofacioskeletal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital lymphangioma of larynx Associated morphology False Developmental abnormality Inferred relationship Some 2
    White forelock with malformations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Trichodermodysplasia and dental alterations syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    46,XY ovotesticular disorder of sex development Associated morphology False Developmental abnormality Inferred relationship Some 1
    Familial multiple naevi flammei Associated morphology False Developmental abnormality Inferred relationship Some 1
    Familial vesicoureteral reflux Associated morphology False Developmental abnormality Inferred relationship Some 1
    Finnish upper limb onset distal myopathy Associated morphology False Developmental abnormality Inferred relationship Some 2
    Caudal hemivertebra Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cervical hemivertebra Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital abnormal fusion of calcaneus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of carpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of femur Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of fibula Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of forepaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of hindpaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of humerus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of liver lobes Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal fusion of metacarpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of metatarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of radius Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of talus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of tibia Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal fusion of ulna Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal long growth of bile duct Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal shape of calcaneus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of carpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of cerebellum Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal shape of cerebrum Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital abnormal shape of clavicle Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of digit Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of femur Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of fibula Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of forepaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Wiedemann Steiner syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital abnormal shape of gallbladder Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital abnormal shape of hindpaw phalanx Associated morphology False Developmental abnormality Inferred relationship Some
    Hypotonia, speech impairment, severe cognitive delay syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal shape of humerus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of liver Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital abnormal shape of metacarpal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of metatarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of ovary Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal shape of fallopian tube Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal shape of radius Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of talus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of tarsal bone Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of testis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal shape of testis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormal shape of tibia Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of ulna Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital abnormal shape of uterus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Agenesis of clavicle Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of genital tubercle Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital absence of gonads Associated morphology False Developmental abnormality Inferred relationship Some 2
    Intellectual disability, alacrima, achalasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Intellectual disability, polydactyly, uncombable hair syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Intellectual disability Wolff type Associated morphology False Developmental abnormality Inferred relationship Some 1
    Dislocation of hip and facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal recessive exfoliative ichthyosis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Kelch like family member 9 related early-onset distal myopathy Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital absence of fallopian tube Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital ankylodactyly Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital bent clavicle Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital bent humerus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital bent radius Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital bent tail Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital bent ulna Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital anomaly of animal tail Associated morphology False Developmental abnormality Inferred relationship Some 1

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