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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
    1208681014 Developmental abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    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
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    686791000077119 anomalie du développement (anomalie morphologique) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name 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 abnormality est un(e) (attribut) structure anormale sur le plan morphologique false Inferred relationship Some
    Developmental abnormality est un(e) (attribut) Congenital anomaly false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    syndrome d'utérus double-hémivagin-agénésie rénale morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    syndrome d'utérus double-hémivagin-agénésie rénale morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Duane anomaly, myopathy, scoliosis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 7
    Dystrophic epidermolysis bullosa nails only (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Dystrophic epidermolysis bullosa nails only (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    syndrome de Meacham morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    syndrome de Meacham morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    syndrome de Meacham morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Toriello Carey syndrome morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Familial caudal dysgenesis (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Laryngo-onycho-cutaneous syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    syndrome oro-facio-digital type 5 morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Oro-facial digital syndrome type 8 (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Palmoplantar keratoderma Nagashima type (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Perlman syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Auriculoocular anomaly and cleft lip syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Duane anomaly, myopathy, scoliosis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Ackerman syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Congenital malformation of autonomic nervous system (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    syndrome de kératodermie palmoplantaire-surdité morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Aganglionosis of large intestine (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Congenital dysgenetic ptosis morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Congenital developmental anomaly of cystic duct (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Gomez Lopez Hernandez syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Basal epidermolysis bullosa simplex (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast Direct morphology False Developmental abnormality Inferred relationship Some 2
    Fluoroscopy guided sclerotherapy of vascular malformation of orbit with contrast Indirect morphology False Developmental abnormality Inferred relationship Some 3
    Endocrine-cerebro-osteodysplasia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Endocrine-cerebro-osteodysplasia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Endocrine-cerebro-osteodysplasia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 7
    Faciocardiorenal syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 9
    Epidermolysis bullosa simplex with muscular dystrophy (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 7
    Faciocardiorenal syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Familial multiple fibrofolliculoma (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Congenital absence of ovary morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Okamoto syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Microlissencephaly micromelia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Ramos Arroyo syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Simpson-Golabi-Behmel syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Embryopathy caused by mycophenolate mofetil (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    syndrome de dysplasie osseuse terminale-défauts de pigmentation morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Simpson Golabi Behmel syndrome type 2 (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Microbrachycephaly, ptosis, cleft lip syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Native American myopathy morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Noonan syndrome-like disorder with loose anagen hair (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Noonan syndrome-like disorder with loose anagen hair (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Pierre Robin sequence faciodigital anomaly syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Pierre Robin sequence faciodigital anomaly syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Midline cleft of lower lip morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Microlissencephaly micromelia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Revesz syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 7
    Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Clastothrix morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Trichothiodystrophy (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Thymic, renal, anal, lung dysplasia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Thoracolaryngopelvic dysplasia morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Severe generalized recessive dystrophic epidermolysis bullosa (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 4
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 6
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 7
    Clastothrix morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 3
    Pierson syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Trichothiodystrophy (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Renier Gabreels Jasper syndrome (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Transient bullous dermolysis of newborn (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 5
    Congenital deformity of left upper limb (disorder) morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 1
    Gingival cysts of infant morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2
    Keratosis follicularis, dwarfism, cerebral atrophy syndrome morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 7
    Parkes Weber syndrome morphologie associée (attribut) False Developmental abnormality Inferred relationship Some 2

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    Reference Sets

    Canada English language reference set (foundation metadata concept)

    Concept inactivation indicator reference set

    GB English

    US English

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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