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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
    Orofaciodigital syndrome type 11 Associated morphology False Developmental abnormality Inferred relationship Some 10
    Orofaciodigital syndrome type 11 Associated morphology False Developmental abnormality Inferred relationship Some 11
    Isolated cryptophthalmos Associated morphology False Developmental abnormality Inferred relationship Some 1
    Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lissencephaly type 3 metacarpal bone dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Orofaciodigital syndrome type 11 Associated morphology False Developmental abnormality Inferred relationship Some 12
    Mammary digital nail syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Orofaciodigital syndrome type 9 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Embryonic cyst of fallopian tube Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital extension contracture of the knee Associated morphology False Developmental abnormality Inferred relationship Some
    Transverse deficiency of hand Associated morphology False Developmental abnormality Inferred relationship Some
    Transverse arrest metacarpal second to fifth rays Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of multiple toes Associated morphology False Developmental abnormality Inferred relationship Some
    Duplication of lower limb Associated morphology False Developmental abnormality Inferred relationship Some
    Paratubal cyst arising in mesonephric duct Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal dominant limb girdle muscular dystrophy type 1B Associated morphology False Developmental abnormality Inferred relationship Some 2
    Spondyloepiphyseal dysplasia Cantu type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Zellweger-like syndrome without peroxisomal anomaly Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Seemanova type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Shashi type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Siderius type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Stevenson type Associated morphology False Developmental abnormality Inferred relationship Some 2
    X-linked intellectual disability Stevenson type Associated morphology False Developmental abnormality Inferred relationship Some 3
    X-linked intellectual disability Stocco Dos Santos type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Stoll type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Pai type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Miles-Carpenter type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Armfield type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability Abidi type Associated morphology False Developmental abnormality Inferred relationship Some 1
    W syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Von Voss-Cherstvoy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Carpenter Waziri syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Carpenter Waziri syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation Associated morphology False Developmental abnormality Inferred relationship Some 2
    Spondyloepiphyseal dysplasia Cantu type Associated morphology False Developmental abnormality Inferred relationship Some 3
    WT limb blood syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    14q11.2 microdeletion syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Smith Fineman Myers syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Smith Fineman Myers syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Short stature Brussels type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    X-linked intellectual disability with cubitus valgus and dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Self-healing collodion baby Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acral self-healing collodion baby Associated morphology False Developmental abnormality Inferred relationship Some 4
    Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Sparse hair with short stature and skin anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Pyknoachondrogenesis Associated morphology False Developmental abnormality Inferred relationship Some 5
    Shprintzen-Goldberg syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Primary ciliary dyskinesia and retinitis pigmentosa syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Pyknoachondrogenesis Associated morphology False Developmental abnormality Inferred relationship Some 7
    Spinocerebellar ataxia type 34 Associated morphology False Developmental abnormality Inferred relationship Some 5
    Branchioskeletogenital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Branchioskeletogenital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Branchioskeletogenital syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Pterygium colli with intellectual disability and digital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Pelviscapular dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Stapes ankylosis with broad thumb and toe syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Steatocystoma multiplex with natal tooth syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Microcephaly with brachydactyly and kyphoscoliosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Microcephaly with cardiac defect and lung malsegmentation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Microcephaly with cardiac defect and lung malsegmentation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology False Developmental abnormality Inferred relationship Some 4
    Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology False Developmental abnormality Inferred relationship Some 6
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Lethal faciocardiomelic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Lethal faciocardiomelic dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 5
    Lethal omphalocele with cleft palate syndrome Associated morphology False Developmental abnormality Inferred relationship Some 10
    Stapes ankylosis with broad thumb and toe syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology False Developmental abnormality Inferred relationship Some 5
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Microcephaly with albinism and digital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Lelis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Late-onset junctional epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 3
    Malignant hyperthermia with arthrogryposis and torticollis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Cleft palate with short stature and vertebral anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Autosomal dominant palmoplantar keratoderma and congenital alopecia Associated morphology False Developmental abnormality Inferred relationship Some 8
    Microcephaly with albinism and digital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 9
    Microcephaly cleft palate syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Disorder of sex development with intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Pterygium colli with intellectual disability and digital anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cleft palate with short stature and vertebral anomaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Postaxial polydactyly type A Associated morphology False Developmental abnormality Inferred relationship Some 5
    Postaxial polydactyly type B Associated morphology False Developmental abnormality Inferred relationship Some 5
    CLOVES syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    CLOVES syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Gingival fibromatosis with facial dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    X-linked intellectual disability Cabezas type Associated morphology False Developmental abnormality Inferred relationship Some 1
    X-linked intellectual disability with plagiocephaly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    X-linked mandibulofacial dysostosis Associated morphology False Developmental abnormality Inferred relationship Some 3
    X-linked myopathy with excessive autophagy Associated morphology False Developmental abnormality Inferred relationship Some 1
    Xeroderma pigmentosum and Cockayne syndrome complex Associated morphology False Developmental abnormality Inferred relationship Some 6
    Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7

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