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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

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

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