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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
    Congenital emphysema Associated morphology False Developmental anomaly Inferred relationship Some 4
    Calcaneonavicular bar Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital ectropion of lip Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of sternum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Distal muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital thoracostenosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Duplication of lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Arteriohepatic dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lack of ossification of humerus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of premaxilla Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of nasal turbinate Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of thoracic cage Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of the peripheral nervous system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital omphalocele Associated morphology False Developmental anomaly Inferred relationship Some 6
    Lack of ossification of tympanic anulus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital keratoconus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cervical spina bifida without hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital cyst of mediastinum Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cortical dysplasia with hemimegalencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital malposition of rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital stricture of osseous meatus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lumbar spina bifida without hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 4
    Autosomal dominant muscular dystrophy with gene located at 5q31 Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of calcaneus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital absence of forearm with hand AND fingers Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ecchordosis physaliphora Associated morphology False Developmental anomaly Inferred relationship Some 4
    Ventricular septal defect with anterior malaligned outlet septum with overriding aortic valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Coloboma of eyelid Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of inner ear Associated morphology False Developmental anomaly Inferred relationship Some 2
    Phocomelia of upper limb (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acephalorhachia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Neural tube defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hydrorhachis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital undergrowth of foot Associated morphology False Developmental anomaly Inferred relationship Some 2
    Muscular ventricular septum defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Swan's syndrome II Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital forefoot varus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Distal interphalangeal joint symphalangism (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Perimembranous ventricular septal defect with extension to right ventricular trabecular component Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital cyst of iris Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida with hydrocephalus of late onset Associated morphology False Developmental anomaly Inferred relationship Some 5
    Spina bifida with hydrocephalus of late onset Associated morphology False Developmental anomaly Inferred relationship Some 6
    Angelman syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell ossification of centrum of cervical vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Imperforate lacrimal punctum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of the respiratory system (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malposition of talus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Perimembranous ventricular septal defect with extension to right ventricular outlet Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Megalocornea Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of peritoneum (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital liver grooves Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectopic liver (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital phimosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ventricular septal defect with posterior malaligned outlet septum with overriding aortic valve (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Distal muscular dystrophy with adult onset Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital abnormality of pulmonary trunk (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of ischium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Omphalocele - irreducible Associated morphology False Developmental anomaly Inferred relationship Some 6
    Congenital subluxation of carpus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital amputation of upper limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hemimegalencephaly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Rachischisis Associated morphology False Developmental anomaly Inferred relationship Some 4
    Rachischisis Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital anomaly of vulva Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital instability of hip joint Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital claw foot (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell ossification of centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell ossification of centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 3
    Patent ductus arteriosus - delayed closure (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Overgrowth of whole upper limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital blepharophimosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Incomplete ossification of carpal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital posterior polar cataract Associated morphology False Developmental anomaly Inferred relationship Some 2
    Olivary heterotopia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of organ of Corti Associated morphology False Developmental anomaly Inferred relationship Some 2
    Patent ductus arteriosus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital abnormality of Eustachian tube (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of carpal bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Branchial cleft internal sinus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Transverse arrest metacarpal first ray Associated morphology False Developmental anomaly Inferred relationship Some 2
    Nasal encephalocele Associated morphology False Developmental anomaly Inferred relationship Some 5
    Cleidocranial dysostosis Associated morphology False Developmental anomaly Inferred relationship Some 7
    Congenital cysts of the posterior segment Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital cleft hand Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bipartite ossification of centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital chordee Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of epididymis Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of middle ear Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of neural structure of trunk Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital structural abnormality of cornea Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malposition of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of muscle AND/OR tendon Associated morphology False Developmental anomaly Inferred relationship Some 2
    Omphalocele with gangrene Associated morphology False Developmental anomaly Inferred relationship Some 6
    Undescended testicle Associated morphology False Developmental anomaly Inferred relationship Some 3
    Incomplete ossification of supraoccipital bone Associated morphology False Developmental anomaly Inferred relationship Some 2
    Developmental ovarian cyst Associated morphology False Developmental anomaly Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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