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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
    Iniencephaly - closed Associated morphology False Developmental anomaly Inferred relationship Some 3
    Iniencephaly - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Pure gonadal dysgenesis 46,XX Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital honeycomb lung Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of salivary gland Associated morphology False Developmental anomaly Inferred relationship Some 2
    Disorder of neuronal migration and differentiation Associated morphology False Developmental anomaly Inferred relationship Some 2
    Failure of differentiation of bones of lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hemimelia of upper limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital polar cataract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of sclera Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital lamellar cataract (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital membranous cataract Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital fold of posterior segment of eye Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital displacement of punctum lacrimale Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cervical spina bifida with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 1
    Cervical spina bifida with hydrocephalus Associated morphology False Developmental anomaly Inferred relationship Some 5
    Pulmonary hypertension in neurofibromatosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Merosin deficient congenital muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Specified optic disc anomalies Associated morphology False Developmental anomaly Inferred relationship Some 2
    Perimembranous ventricular septal defect with extension to right ventricular inlet Associated morphology False Developmental anomaly Inferred relationship Some 3
    Ankyloblepharon Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital myopathy with uniform fiber type Associated morphology False Developmental anomaly Inferred relationship Some 2
    Tilted optic disc Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of membranous labyrinth Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectrodactyly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Duane syndrome with vertical deviation (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Cleft cartilaginous centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital conjunctival cyst Associated morphology False Developmental anomaly Inferred relationship Some 3
    Triphalangeal thumb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Osteopetrosis - intermediate type Associated morphology False Developmental anomaly Inferred relationship Some 2
    De Lange syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Iniencephaly - open Associated morphology False Developmental anomaly Inferred relationship Some 3
    Iniencephaly - open Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital anomaly of musculoskeletal structure of trunk Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of the thymus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Webbed penis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Intermediate X-linked muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Dimelia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft cartilaginous centrum of lumbar vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of blood vessel of limb Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital anomaly of anterior segment of eye (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of trunk Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of vitreous humour Associated morphology False Developmental anomaly Inferred relationship Some 2
    Early secondary malformation of the central nervous system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Double auditory canal Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of endocrine testis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Persistent tunica vasculosa lentis Associated morphology False Developmental anomaly Inferred relationship Some 4
    Incomplete ossification of ulna Associated morphology False Developmental anomaly Inferred relationship Some 2
    Lack of ossification of premaxilla Associated morphology False Developmental anomaly Inferred relationship Some 4
    Cystic testicular dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malposition of ischium Associated morphology False Developmental anomaly Inferred relationship Some 2
    Incomplete ossification of calcaneus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bilateral unstable hip Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital syphilitic splenomegaly Associated morphology False Developmental anomaly Inferred relationship Some 1
    Posterior embryotoxon (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Duplication of whole lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hydatid cyst of Morgagni - male Associated morphology False Developmental anomaly Inferred relationship Some 4
    Floppy infant syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hologastroschisis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Short preputial frenulum Associated morphology False Developmental anomaly Inferred relationship Some 3
    Café-au-lait macules with pulmonary stenosis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Encephalocystocele Associated morphology False Developmental anomaly Inferred relationship Some 4
    Spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spina bifida without hydrocephalus - closed Associated morphology False Developmental anomaly Inferred relationship Some 4
    Congenital posterolateral diaphragmatic hernia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Atelencephaly Associated morphology False Developmental anomaly Inferred relationship Some 2
    Liver hyperplasia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Bipartite ossification of centrum of sacral vertebra Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital hyperplasia of sebaceous glands of lip Associated morphology False Developmental anomaly Inferred relationship Some 2
    Midline sinus of the upper lip Associated morphology False Developmental anomaly Inferred relationship Some 2
    Metatarsus adductus Associated morphology False Developmental anomaly Inferred relationship Some 4
    Autosomal dominant muscular dystrophy not predominantly limb girdle Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of testis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Transverse deficiency of arm, shoulder level Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of pancreas Associated morphology False Developmental anomaly Inferred relationship Some 3
    Lack of ossification of fibula Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital buried penis Associated morphology False Developmental anomaly Inferred relationship Some 3
    Doubly committed subarterial ventricular septal defect with muscular posterior inferior rim Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital anomaly of nervous system of head/neck (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Floating liver Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hemicentric thoracic centrum Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of optic nerve Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of vomer Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of cerebrovascular system Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital heterochromia iridis Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital vascular anomaly of eye Associated morphology False Developmental anomaly Inferred relationship Some 3
    Duane-radial ray syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Acrocephalosyndactyly type V (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Hypogonadism with anosmia Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital undergrowth of lower limb Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital anomaly of joint Associated morphology False Developmental anomaly Inferred relationship Some 2
    Axenfeld-Rieger syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Fukuyama congenital muscular dystrophy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Split foot Associated morphology False Developmental anomaly Inferred relationship Some 2
    Anterior embryotoxon Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital vertical talus Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital anomaly of iris Associated morphology False Developmental anomaly Inferred relationship Some 2
    Cleft hand - first cleft Associated morphology False Developmental anomaly Inferred relationship Some 3
    Congenital malformation of eye, ear and neck Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital malformation of eye, ear and neck Associated morphology False Developmental anomaly Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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