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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Some
    Developmental anomaly Is a Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Sacral spina bifida with hydrocephalus - open (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Sacral spina bifida with hydrocephalus - open (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Meromicrosomia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Supracristal ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Furst-Ostrum syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital thickening of rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Alstrom syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malposition of tarsal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of scapula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fissure of larynx Associated morphology False Developmental anomaly Inferred relationship Some 2
    Perodactylia of lesser toe Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mis-shapen spleen Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital lobulation of spleen Associated morphology False Developmental anomaly Inferred relationship Some 2
    Micropapilla Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormal fusion of femur Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital microhepatia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Microdysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital structural abnormality of orbit proper (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital overgrowth of proximal lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Syringomyelia and syringobulbia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital complex varus foot deformity Associated morphology False Developmental anomaly Inferred relationship Some 4
    Incomplete ossification of centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Reticulate vascular nevus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Osteopetrosis - unclassified Associated morphology False Developmental anomaly Inferred relationship Some 2
    Persistent Blake's pouch cyst Associated morphology False Developmental anomaly Inferred relationship Some 1
    Emery-Dreifuss muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital flaccid paralysis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of cartilage Associated morphology False Developmental anomaly Inferred relationship Some 2
    Caudal regression syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of tibia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Myelodysplasia of spinal cord Associated morphology False Developmental anomaly Inferred relationship Some 2
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 3
    Thoracic spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Separate hepatic vein and inferior vena cava connections to heart (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Funnel-shaped pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital familial idiopathic priapism Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hemicentric cervical centrum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Proximal interphalangeal joint symphalangism Associated morphology False Developmental anomaly Inferred relationship Some 2
    Complete situs inversus with dextrocardia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Mermaid sirenomelia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Radial polydactyly Wassel 2 Associated morphology False Developmental anomaly Inferred relationship Some 2
    Mirror image bronchial anatomy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Myeloschisis Associated morphology False Developmental anomaly Inferred relationship Some 4
    Monophthalmos Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of upper trunk Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of central nervous system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Fibrolipoma of filum terminale Associated morphology False Developmental anomaly Inferred relationship Some 2
    Delta phalanx of finger Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital clinodactyly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital leg length discrepancy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital thickening of ischium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple pterygium syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cervical myelocystocele (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cervical myelocystocele (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital penoscrotal transposition Associated morphology False Developmental anomaly Inferred relationship Some 3
    Aglossia-adactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Holorachischisis Associated morphology False Developmental anomaly Inferred relationship Some 4
    Holorachischisis Associated morphology False Developmental anomaly Inferred relationship Some 5
    Nagele's pelvis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital corneal opacity without visual deficit Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of spinal cord (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of fibula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Segmental neurofibromatosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital abnormality of middle cardiac vein (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cockayne syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Prune belly syndrome Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital rearfoot varus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Incomplete ossification of centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Functionally congenital single lung (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Miller Dieker syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Oculoskeletal dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Oculoskeletal dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of spinal meninges Associated morphology False Developmental anomaly Inferred relationship Some 2
    Benign scapuloperoneal muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of upper limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft hand - central Associated morphology False Developmental anomaly Inferred relationship Some 3
    Late secondary abnormalities of the central nervous system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Tibial muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 1
    Anisomelia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of larynx Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ulnar dimelia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Undergrowth of whole upper limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of lacrimal system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Geographic retinal dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital perforation of the nasal sinus wall Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital bent humerus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Left bronchial isomerism (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectopic cilia of eyelid Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital leg bone bowing Associated morphology False Developmental anomaly Inferred relationship Some 2
    SOX2 anophthalmia syndrome Associated morphology False Developmental anomaly Inferred relationship Some 1
    Coffin-Siris syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Giant ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Preauricular sinus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Preauricular sinus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Preauricular sinus Associated morphology False Developmental anomaly Inferred relationship Some 5
    Microtia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital failure of eye elevation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital emphysema Associated morphology False Developmental anomaly Inferred relationship Some 4

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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