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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

    Descriptions:

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

    0 descendants.

    Expanded Value Set

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

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