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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 false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital anomaly of penis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Facioscapulohumeral muscular dystrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    X-linked muscular dystrophy with limb girdle distribution Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ulnar polydactyly of fingers Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ulnar and humeroulnar synostosis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Branchial cleft anomaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital blindness Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of gallbladder Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cervical spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 5
    Cervical spina bifida with hydrocephalus - open Associated morphology False Developmental anomaly Inferred relationship Some 6
    Congenital thickening of ilium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pelvis justo major Associated morphology False Developmental anomaly Inferred relationship Some 2
    Sacralization of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital lobar emphysema Associated morphology False Developmental anomaly Inferred relationship Some 4
    Type 2 lissencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Arthrogryposis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Rudimentary tracheal bronchus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Polymelia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fusion of ossicles of ear Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dysgenesis of the brainstem Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital fissure of epiglottis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital corneal opacity with visual deficit Associated morphology False Developmental anomaly Inferred relationship Some 3
    A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Associated morphology False Developmental anomaly Inferred relationship Some 2
    Robert's pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital tarsal kink (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital myogenic ptosis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Abnormal course of aortic arch (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell ossification of centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Transverse arrest metacarpal second to fifth rays Associated morphology False Developmental anomaly Inferred relationship Some 2
    Polydactyly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ovarian dysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 3
    Sacral spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Lack of ossification of centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Vesicular appendix of ovary Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of ear (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital branched rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of brain Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital folds of the posterior segment Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of lung Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anomaly of cricoid cartilage Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital misalignment of rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Right lung isomerism is a congenital condition in which both lungs develop with the anatomical structure of a right lung. Normally, the right lung has three lobes (upper, middle, and lower), while the left lung has two lobes (upper and lower). In this condition, however, the abnormal left lung is also trilobed, resulting in bilateral trilobed lungs. Associated morphology False Developmental anomaly Inferred relationship Some 2
    Spondyloschisis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Becker muscular dystrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Intrauterine amputation of lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital non-progressive ataxia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Defective development of the cauda equina Associated morphology False Developmental anomaly Inferred relationship Some 3
    Late onset proximal muscular dystrophy with dysarthria Associated morphology False Developmental anomaly Inferred relationship Some 3
    Restrictive ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 2
    Talipes calcaneovarus Associated morphology False Developmental anomaly Inferred relationship Some 5
    Manifesting female carrier of X-linked muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Associated morphology False Developmental anomaly Inferred relationship Some 3
    Trifid tongue Associated morphology False Developmental anomaly Inferred relationship Some 2
    Myopathy with cytoplasmic inclusions (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False Developmental anomaly Inferred relationship Some 3
    A neural tube defect with characteristics of improper closure of the spinal column during embryonal development. In the case of spina bifida occulta the site of the lesion is not exposed, there is a midline defect of the vertebral bodies without protrusion of the spinal cord or meninges. Associated morphology False Developmental anomaly Inferred relationship Some 4
    Sacral spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Sacral spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital anomaly of sternocleidomastoid muscle Associated morphology False Developmental anomaly Inferred relationship Some 2
    Dumbbell-shaped cartilaginous centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital laryngeal adductor palsy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of rib Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multiple café-au-lait macules due to neurofibromatosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Midline cervical cleft (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Midline cervical cleft (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Midline cervical cleft (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Incomplete ossification of arch of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital subglottic web of larynx Associated morphology False Developmental anomaly Inferred relationship Some 2
    Sacral agenesis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Alacrima Associated morphology False Developmental anomaly Inferred relationship Some 2
    Myopathy with type I hypotrophy Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of femur Associated morphology False Developmental anomaly Inferred relationship Some 2
    Celoschisis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Irido-trabecular dysgenesis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malposition of pubis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hanhart's syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Severe X-linked myotubular myopathy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hydromyelia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Oculopharyngeal muscular dystrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Bifid tongue Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acrosyndactyly of the fingers Associated morphology False Developmental anomaly Inferred relationship Some 3
    Coloboma of choroid Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital ovarian dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Megacystis, microcolon, hypoperistalsis syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Barkan membrane Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of abdomen Associated morphology False Developmental anomaly Inferred relationship Some 2
    Osteopetrosis - delayed type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Middle ear anomaly, excluding ossicles Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hydromyelocele with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 6
    Spina bifida without hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of retina Associated morphology False Developmental anomaly Inferred relationship Some 2
    Spina bifida aperta of thoracic spine (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Spina bifida aperta of thoracic spine (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Perimembranous ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Some 3
    Neurocutaneous syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Macropalpebral fissure Associated morphology False Developmental anomaly Inferred relationship Some 2
    Structural anomaly of the cochlea and vestibular labyrinth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cordate pelvis Associated morphology False Developmental anomaly Inferred relationship Some 2

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