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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Primitive. Date: 31-Jul 2021. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental abnormality Is a Morphologically abnormal structure false Inferred relationship Some
    Developmental abnormality Is a Congenital anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Double uterus, hemivagina, renal agenesis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Double uterus, hemivagina, renal agenesis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Duane anomaly, myopathy, scoliosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Dystrophic epidermolysis bullosa nails only Associated morphology False Developmental abnormality Inferred relationship Some 4
    Dystrophic epidermolysis bullosa nails only Associated morphology False Developmental abnormality Inferred relationship Some 5
    EDICT syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Meacham syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Meacham syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Meacham syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Toriello Carey syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Familial caudal dysgenesis Associated morphology False Developmental abnormality Inferred relationship Some 2
    LOC syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Ectodermal dysplasia with blindness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Orofaciodigital syndrome type 10 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Orofaciodigital syndrome type 5 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Orofaciodigital syndrome type 8 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Osteosclerosis, developmental delay, craniosynostosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    PAGOD syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Palmoplantar keratoderma Nagashima type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Perlman syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Auriculoocular anomaly and cleft lip syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Duane anomaly, myopathy, scoliosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ackerman syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital malformation of autonomic nervous system Associated morphology False Developmental abnormality Inferred relationship Some 1
    Palmoplantar keratoderma with deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Aganglionosis of large intestine Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital dysgenetic ptosis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital developmental anomaly of cystic duct Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pai syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Gomez Lopez Hernandez syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Basal epidermolysis bullosa simplex Associated morphology 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 Associated morphology False Developmental abnormality Inferred relationship Some 4
    Endocrine-cerebro-osteodysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Endocrine-cerebro-osteodysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Faciocardiorenal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Fallot complex with intellectual disability and growth delay syndrome Associated morphology False Developmental abnormality Inferred relationship Some 9
    Epidermolysis bullosa simplex with muscular dystrophy Associated morphology False Developmental abnormality Inferred relationship Some 7
    Faciocardiorenal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Familial multiple fibrofolliculoma Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital absence of ovary Associated morphology False Developmental abnormality Inferred relationship Some 2
    Okamoto syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Microcephaly, seizure, intellectual disability, heart disease syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hypoplasia and coloboma of alar cartilage with telecanthus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Macrostomia, preauricular tag, external ophthalmoplegia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    RIN2 syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    RIN2 syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Microlissencephaly micromelia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Ramos Arroyo syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Syndactyly, telecanthus, anogenital and renal malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Hypotrichosis with juvenile macular degeneration syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Stern Lubinsky Durrie syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Simpson-Golabi-Behmel syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Mycophenolate mofetil embryopathy Associated morphology False Developmental abnormality Inferred relationship Some 1
    Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Simpson Golabi Behmel syndrome type 2 Associated morphology False Developmental abnormality Inferred relationship Some 1
    Microbrachycephaly, ptosis, cleft lip syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Native American myopathy Associated morphology False Developmental abnormality Inferred relationship Some 3
    Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Noonan syndrome-like disorder with loose anagen hair Associated morphology False Developmental abnormality Inferred relationship Some 3
    Noonan syndrome-like disorder with loose anagen hair Associated morphology False Developmental abnormality Inferred relationship Some 4
    Pili torti onychodysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    PHAVER syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pierre Robin sequence faciodigital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pierre Robin sequence faciodigital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Midline cleft of lower lip Associated morphology False Developmental abnormality Inferred relationship Some 2
    Multinodular goitre, cystic kidney, polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Microlissencephaly micromelia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Polyvalvular heart disease syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Revesz syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Clastothrix Associated morphology False Developmental abnormality Inferred relationship Some 1
    Trichothiodystrophy Associated morphology False Developmental abnormality Inferred relationship Some 3
    Thymic, renal, anal, lung dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Thoracolaryngopelvic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 4
    Severe generalised recessive dystrophic epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 4
    SERKAL syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    SERKAL syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    SERKAL syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    SERKAL syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Clastothrix Associated morphology False Developmental abnormality Inferred relationship Some 3
    Pierson syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Trichothiodystrophy Associated morphology False Developmental abnormality Inferred relationship Some 5
    Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Renier Gabreels Jasper syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Transient bullous dermolysis of newborn Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital deformity of left upper limb Associated morphology False Developmental abnormality Inferred relationship Some 1
    Gingival cysts of infant Associated morphology False Developmental abnormality Inferred relationship Some 2
    Keratosis follicularis, dwarfism, cerebral atrophy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Parkes Weber syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2

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