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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
    Incomplete ossification of tympanic anulus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital hepatic fibrosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital tracheobronchomegaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Microglossia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Occult spinal dysraphism sequence Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Occult spinal dysraphism sequence Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Amyelia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Congenital macular changes Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Sporadic megalencephaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Nemaline myopathy, late onset type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Earpit syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Malformation of throat Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of pelvic bones Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Encephalo-ophthalmic dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ji muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital anomaly of vas deferens Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital abnormality of hepatic vein Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital syringomyelia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Western type of congenital muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital malposition of metacarpal bone Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Hereditary myopathy limited to females Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital epiblepharon-inferior oblique syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Café-au-lait macules with temporal dysrhythmia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Microblepharia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Doubly committed subarterial ventricular septal defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Incomplete ossification of talus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Microgyria Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital aphakia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Atelomyelia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Hepatomphalocele Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Camptodactyly-little finger Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Branchial cleft external sinus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ectopic pancreas in duodenum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Congenital aplasia of inner ear Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital muscular hypertrophy-cerebral syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Supernumerary centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cryptophthalmos syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Spinobulbar atrophy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of neck Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Anomalies of cerebrum Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Anomalies of pancreas Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Duplication of fibula Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital malposition of spleen Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Rieger eye malformation sequence Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Embryotoxon Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital hypoplasia of eye bulge Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital bent ilium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Hydromeningocele Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Complete phocomelia of upper limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Talipomanus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Central polydactyly of fingers Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital malposition of lung Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Dwarf pelvis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of eye Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Focal nodular hypoplasia of liver Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Radial polydactyly Wassel 1 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Paraspadias Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital anomaly of ulna Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Cleft cartilaginous centrum of thoracic vertebra Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Nemaline myopathy Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital cleft thyroid cartilage Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Benign congenital muscular dystrophy with finger flexion contractures Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital disorders of eye and eyelid movements Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital total cataract Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital anomaly of rib cartilage Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital anomaly of peripheral nerve Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Lumbar spina bifida with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Lumbar spina bifida with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 6
    Congenital abnormality of systemic vein Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Neurofibromatosis type 2 Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Abnormal lung lobation Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Bifid epiglottis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital anomaly of lacrimal gland Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital laryngomalacia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Incomplete ossification of arch of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Polydactyly of thumb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of abdominal wall Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anterior polar cataract Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Autosomal dominant muscular dystrophy with limb girdle distribution Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Blepharophimosis syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Beckwith-Wiedemann syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Incomplete ossification of centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Pelvis plana Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital cystic disease of liver Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital diverticulum of bile duct Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital coloboma of optic disc Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Distal radioulnar synostosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Familial megalencephaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 1
    Congenital contracted pelvis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital abnormal long growth of bile duct Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Iniencephaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Iniencephaly Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital anomaly of trachea Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital thickening of talus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital malposition of metatarsal bone Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Failure of differentiation of bones of forearm Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital anomaly of azygos vein Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Spina bifida of cervical region Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Spina bifida of cervical region Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4

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