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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
    Familial multiple fibrofolliculoma Associated morphology False Developmental anomaly Inferred relationship Some 3
    Okamoto syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Microlissencephaly micromelia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Ramos Arroyo syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Syndactyly, telecanthus, anogenital and renal malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Hypotrichosis with juvenile macular degeneration syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Stern Lubinsky Durrie syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Simpson-Golabi-Behmel syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Embryopathy caused by mycophenolate mofetil (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Terminal osseous dysplasia and pigmentary defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Simpson Golabi Behmel syndrome type 2 Associated morphology False Developmental anomaly Inferred relationship Some 1
    Microbrachycephaly, ptosis, cleft lip syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Native American myopathy Associated morphology False Developmental anomaly Inferred relationship Some 3
    Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Noonan syndrome-like disorder with loose anagen hair (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Noonan syndrome-like disorder with loose anagen hair (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Pili torti onychodysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Pierre Robin sequence faciodigital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Pierre Robin sequence faciodigital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Midline cleft of lower lip Associated morphology False Developmental anomaly Inferred relationship Some 2
    Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Microlissencephaly micromelia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Polyvalvular heart disease syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Revesz syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Clastothrix Associated morphology False Developmental anomaly Inferred relationship Some 1
    Trichothiodystrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Thymic, renal, anal, lung dysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Thoracolaryngopelvic dysplasia Associated morphology False Developmental anomaly Inferred relationship Some 4
    Severe generalized recessive dystrophic epidermolysis bullosa (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Clastothrix Associated morphology False Developmental anomaly Inferred relationship Some 3
    Pierson syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Trichothiodystrophy (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Renier Gabreels Jasper syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Transient bullous dermolysis of newborn (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Congenital deformity of left upper limb (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Keratosis follicularis, dwarfism, cerebral atrophy syndrome Associated morphology False Developmental anomaly Inferred relationship Some 7
    Parkes Weber syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Angio-osteohypertrophic syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Angio-osteohypertrophic syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    46,XY partial gonadal dysgenesis (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Celosomus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Ethmocephalus Associated morphology False Developmental anomaly Inferred relationship Some 2
    Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Neuroectodermal endocrine syndrome Associated morphology False Developmental anomaly Inferred relationship Some 2
    Neuroectodermal endocrine syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Embryofetopathy caused by methimazole (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Ligase 4 syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Keratin 14 related epidermolysis bullosa simplex (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Kleefstra syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Congenital ichthyosis with hypotrichosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Autosomal dominant osteopetrosis type 2 (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1
    Neuroectodermal melanolysosomal disease (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Palmoplantar keratoderma with clinodactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Junctional epidermolysis bullosa non-Herlitz type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Hypertelorism Teebi type (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Pericardial and diaphragmatic defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Hypospadias, hypertelorism, coloboma, deafness syndrome Associated morphology False Developmental anomaly Inferred relationship Some 7
    Congenital trigger thumb of right hand Associated morphology False Developmental anomaly Inferred relationship Some 1
    Congenital trigger thumb of left hand Associated morphology False Developmental anomaly Inferred relationship Some 1
    Polysyndactyly and cardiac malformation syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 7
    Cryptomicrotia brachydactyly syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Crisponi syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Craniomicromelic syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Neutropenia, monocytopenia, deafness syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Juvenile osteochondrosis of tibial tuberosity of bilateral knees (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 4
    Crisponi syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Craniomicromelic syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Temple Baraitser syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Atrial septal defect, atrioventricular conduction defect syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 2
    Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology False Developmental anomaly Inferred relationship Some 5
    Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 5
    Auricular abnormality, cleft lip, ocular abnormality syndrome Associated morphology False Developmental anomaly Inferred relationship Some 3
    Keutel syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Craniolenticulosutural dysplasia (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 6
    Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    5-amino-4-imidazole carboxamide ribosiduria (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 3
    Embryopathy caused by retinoid (disorder) Associated morphology False Developmental anomaly Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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