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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
    Xeroderma pigmentosum, group D Associated morphology False Developmental abnormality Inferred relationship Some 2
    Xeroderma pigmentosum, variant form Associated morphology False Developmental abnormality Inferred relationship Some 2
    Haspeslagh Fryns Muelenaere syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Holoprosencephaly and postaxial polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Saito Kuba Tsuruta syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Goldblatt Wallis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Ichthyosis cheek eyebrow syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ichthyosis cheek eyebrow syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Limb body wall complex Associated morphology False Developmental abnormality Inferred relationship Some 1
    Fryns macrocephaly Associated morphology False Developmental abnormality Inferred relationship Some 6
    Upper limb defect with eye and ear abnormalities syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Upper limb defect with eye and ear abnormalities syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Mullerian duct and limb anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Mullerian duct and limb anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Morse Rawnsley Sargent syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Boder syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Thong Douglas Ferrante syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Short stature with valvular heart disease and characteristic facies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Pili torti with developmental delay and neurological abnormality syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Verloes Bourguignon syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Mehes syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Steinfeld syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Steinfeld syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Chitty Hall Baraitser syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Chitty Hall Baraitser syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Urban Rogers Meyer syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Thomas syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Thomas syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Familial penile hypospadias Associated morphology False Developmental abnormality Inferred relationship Some 2
    Multicentric osteolysis nodulosis arthropathy spectrum Associated morphology False Developmental abnormality Inferred relationship Some 3
    Multicentric osteolysis nodulosis arthropathy spectrum Associated morphology False Developmental abnormality Inferred relationship Some 4
    Syndromic recessive X-linked ichthyosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Trisomy 10p Associated morphology False Developmental abnormality Inferred relationship Some 3
    Trisomy 10p Associated morphology False Developmental abnormality Inferred relationship Some 5
    Haspeslagh Fryns Muelenaere syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Microcephaly with deafness and intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Morse Rawnsley Sargent syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Nathalie syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Shprintzen Goldberg omphalocele syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Shprintzen Goldberg omphalocele syndrome Associated morphology False Developmental abnormality Inferred relationship Some 10
    Trisomy 17p Associated morphology False Developmental abnormality Inferred relationship Some 3
    Biliary atresia with splenic malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Central serous retinopathy with pit of optic disc Associated morphology False Developmental abnormality Inferred relationship Some 3
    Heide syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Sellars Beighton syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Keratoderma hereditarium mutilans with ichthyosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Isolated congenital alacrima Associated morphology False Developmental abnormality Inferred relationship Some 1
    Koolen De Vries syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Punctate palmoplantar keratoderma type 1 Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hereditary palmoplantar keratoderma Gamborg Nielsen type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Syndromic orbital border hypoplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    X-linked reticulate pigmentary disorder with systemic manifestation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Harrod syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Harrod syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    X-linked lissencephaly with abnormal genitalia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Lissencephaly syndrome Norman Roberts type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Cooks syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Metatarsus adductus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Talipes calcaneovarus Associated morphology False Developmental abnormality Inferred relationship Some 1
    Harrod syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Lissencephaly syndrome Norman Roberts type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Solitary aortic trunk with pulmonary atresia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital abnormality of iris and ciliary body Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital deformity of foot Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Autosomal dominant centronuclear myopathy Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital rearfoot valgus Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital forefoot valgus Associated morphology False Developmental abnormality Inferred relationship Some
    Epidermolysis bullosa simplex due to plakophilin deficiency Associated morphology False Developmental abnormality Inferred relationship Some 3
    Epidermolysis bullosa simplex with circinate migratory erythema Associated morphology False Developmental abnormality Inferred relationship Some 3
    Schisis association syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Enlarged parietal foramina Associated morphology False Developmental abnormality Inferred relationship Some 2
    Partial defect of atrioventricular canal Associated morphology False Developmental abnormality Inferred relationship Some 2
    Partial defect of atrioventricular canal Associated morphology False Developmental abnormality Inferred relationship Some 3
    Fetal iodine syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Wolf Hirschhorn syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Rozin Hertz Goodman syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Worster Drought syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Epidermolysis bullosa simplex with pyloric atresia Associated morphology False Developmental abnormality Inferred relationship Some 6
    Rozin Hertz Goodman syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Unilateral polymicrogyria Associated morphology False Developmental abnormality Inferred relationship Some 3
    Sonoda syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Sonoda syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    3C syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    3C syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    3C syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    3C syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Bethlem myopathy Associated morphology False Developmental abnormality Inferred relationship Some 2
    Aase Smith type 1 syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Congenital abnormal retraction of eyelid Associated morphology False Developmental abnormality Inferred relationship Some 3
    Familial median cleft of upper and lower lip Associated morphology False Developmental abnormality Inferred relationship Some 5
    Aase Smith type 1 syndrome Associated morphology False Developmental abnormality Inferred relationship Some 10
    Annular epidermolytic ichthyosis Associated morphology False Developmental abnormality Inferred relationship Some 1
    Orofaciodigital syndrome type 9 Associated morphology False Developmental abnormality Inferred relationship Some 7
    Orofaciodigital syndrome type 9 Associated morphology False Developmental abnormality Inferred relationship Some 8
    Orofaciodigital syndrome type 9 Associated morphology False Developmental abnormality Inferred relationship Some 9
    Orofaciodigital syndrome type 11 Associated morphology False Developmental abnormality Inferred relationship Some 9
    Orofaciodigital syndrome type 11 Associated morphology False Developmental abnormality Inferred relationship Some 10

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