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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
    190336012 Developmental malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    190337015 Developmental defect en Synonym Active Entire term case insensitive SNOMED CT core module
    190338013 Dysgenesis en Synonym Active Entire term case insensitive SNOMED CT core module
    190339017 Anomalous formation en Synonym Active Entire term case insensitive SNOMED CT core module
    190340015 Abnormal development en Synonym Active Entire term case insensitive SNOMED CT core module
    190341016 Malformation en Synonym Active Entire term case insensitive SNOMED CT core module
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module
    1208681014 Developmental abnormality en Synonym Active Entire term case insensitive SNOMED CT core module

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenital malformation of eye, ear and neck Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital malformation of eye, ear and neck Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Platyspondylia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital bent radius Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital undergrowth of whole of lower limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Lack of ossification of scapula Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Rudimentary arm Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital nuclear ophthalmoplegia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Central core disease Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Incomplete ossification of metacarpal bone Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Autosomal recessive muscular dystrophy with abnormal dystrophin-associated glycoprotein Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Incomplete ossification of scapula Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Juvenile pelvis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Tuberous sclerosis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital anomaly of cervical vertebra Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Rieger syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Supernumerary centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Incomplete ossification of hyoid bone Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Pelvis justo minor Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Extralobar bronchopulmonary sequestration Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Anomalies of hypothalamus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of lip Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Complete aphalangia of upper limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cervical spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Cervical spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Ventricular septal defect with posterior malaligned outlet septum with overriding pulmonary valve Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital anomaly of ossicles of ear Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Muscular ventricular septal defect in apical trabecular septum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Reduction deformity of upper limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida aperta of lumbar spine Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Spina bifida aperta of lumbar spine Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lethal white syndrome of foals Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cervical auricle Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Pulmonary atresia with ventricular septal defect of Fallot type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ectopic bone and cartilage in lung Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Rotational orbital dystopia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Synechia vulvae Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Undergrowth of upper limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Abnormal liver lobulation Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Incomplete ossification of premaxilla Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Partial aphalangia of upper limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital malposition of ovary Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Camptodactyly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital laryngeal abductor palsy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of male genital system Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Duane's syndrome, type 3 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cervical thymic remnant Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Pit of optic disc Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Type 1 lissencephaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital cerebral meningocele Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Cerebro-oculo-facio-skeletal syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Amyoplasia congenita disruptive sequence Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Macrophthalmos Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital spade-like hand Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ear, face and neck congenital anomalies Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ear, face and neck congenital anomalies Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Ear, face and neck congenital anomalies Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital anomaly of subcutaneous tissue Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Thyroglossal duct sinus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Low set ears Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Testicular dysgenesis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Supernumerary lacrimal punctum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Myotubular myopathy with type I atrophy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Myelocystocele Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Myelocystocele Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Talipes equinus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Optic disc structural anomaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital corneal keloid Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Lack of ossification of hyoid bone Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Myelinated nerve fibers of optic disc Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Oculodento-osseous dysplasia - mild type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital anomaly of ear with impairment of hearing Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Clinodactyly with delta phalanx Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital neuropathy with arthrogryposis multiplex congenita Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Status marmoratus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of metatarsal bone Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Muscle eye brain disease Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Gastroschisis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital thickening of radius Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Incomplete ossification of arch of cervical vertebra Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital overgrowth of distal lower limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Doubly committed subarterial ventricular septal defect with membranous septum extension Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Split spinal cord malformation Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Hemicentric sacral centrum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Radioulnar dysostosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Lumbar spina bifida with hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Spina bifida of sacral region Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida of sacral region Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Persistent thyroglossal duct Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Encephalocele of orbit Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital anomaly of blood vessel of upper limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Trilobular liver Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Peutz-Jeghers polyps of small bowel Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Congenital degeneration of nervous system Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Mirror hands Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital lip pits Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital lateral curvature of penis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    X-linked muscular dystrophy with abnormal dystrophin Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3

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    This concept is not in any reference sets

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