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

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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