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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
    Scalp defect postaxial polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Caudal appendage deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Arthrogryposis hyperkeratosis syndrome lethal form Associated morphology False Developmental abnormality Inferred relationship Some 4
    Cataract, congenital heart disease, neural tube defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Cataract, congenital heart disease, neural tube defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Cataract, congenital heart disease, neural tube defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Cataract, congenital heart disease, neural tube defect syndrome Associated morphology False Developmental abnormality Inferred relationship Some 9
    X-linked intellectual disability Nascimento type Associated morphology False Developmental abnormality Inferred relationship Some 1
    Weaver Williams syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Oculoauriculovertebral spectrum with radial defects Associated morphology False Developmental abnormality Inferred relationship Some 3
    Autosomal recessive amelia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Cortical blindness, intellectual disability, polydactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Pfeiffer Palm Teller syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cleft lip retinopathy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cyprus facial neuromusculoskeletal syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Longitudinal deficiency of foot Associated morphology False Developmental abnormality Inferred relationship Some
    Czeizel Losonci syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Czeizel Losonci syndrome Associated morphology False Developmental abnormality Inferred relationship Some 11
    Congenital anomaly of central nervous system Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital J shaped sella turcica Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital wide symphysis pubis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital club finger Associated morphology False Developmental abnormality Inferred relationship Some 2
    Common atrioventricular junction Associated morphology False Developmental abnormality Inferred relationship Some 1
    Intellectual disability, cataract, calcified pinna, myopathy syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ichthyosis, oral and digital anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Ichthyosis, oral and digital anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ichthyosis, oral and digital anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Osteopenia, intellectual disability, sparse hair syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital anomaly of digestive organ Associated morphology False Developmental abnormality Inferred relationship Some 2
    Micropapilla Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital cataract ichthyosis syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Spinocerebellar ataxia dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Charlie M syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Charlie M syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Charlie M syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Congenital anomaly of talus Associated morphology False Developmental abnormality Inferred relationship Some
    Charlie M syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    German syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital coronary artery fistula to left atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital coronary artery fistula to left ventricle Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital coronary artery fistula to right atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital coronary artery fistula to right ventricle Associated morphology False Developmental abnormality Inferred relationship Some 4
    Epilepsy telangiectasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Spinocerebellar ataxia dysmorphism syndrome Associated morphology False Developmental abnormality Inferred relationship Some 8
    Dysmorphism, pectus carinatum, joint laxity syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Congenital absence of bile duct Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital anomaly of iris Associated morphology False Developmental abnormality Inferred relationship Some 2
    Dermatoleukodystrophy Associated morphology False Developmental abnormality Inferred relationship Some 3
    Bencze syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Dysmorphism, short stature, deafness, disorder of sex development syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Dysmorphism, short stature, deafness, disorder of sex development syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Marfanoid habitus with autosomal recessive intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    OSLAM syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Telecanthus, hypertelorism, strabismus, pes cavus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Absent tibia, polydactyly, arachnoid cyst syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Multiple sclerosis, ichthyosis, factor VIII deficiency syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    German syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Telecanthus, hypertelorism, strabismus, pes cavus syndrome Associated morphology False Developmental abnormality Inferred relationship Some 6
    Hypospadias Associated morphology False Developmental abnormality Inferred relationship Some 1
    Hypospadias Associated morphology False Developmental abnormality Inferred relationship Some 2
    Czeizel Losonci syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Synechia vulvae Associated morphology False Developmental abnormality Inferred relationship Some 2
    Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Incomplete anencephaly Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital absence of part of arm Associated morphology False Developmental abnormality Inferred relationship Some
    Anomalous muscle bands of left ventricle Associated morphology False Developmental abnormality Inferred relationship Some
    Bonnemann Meinecke Reich syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital cleft hand Associated morphology False Developmental abnormality Inferred relationship Some
    Congenital absence of lobe of liver Associated morphology False Developmental abnormality Inferred relationship Some 2
    Uterus unicornis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Doubling of uterus with doubling of cervix and vagina Associated morphology False Developmental abnormality Inferred relationship Some 2
    Dysplastic ovary Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital ovarian dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Embedded tooth Associated morphology False Developmental abnormality Inferred relationship Some 3
    Mikati Najjar Sahli syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital absence of upper limb Associated morphology False Developmental abnormality Inferred relationship Some
    Uterus cordiformis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital stricture of bile duct Associated morphology False Developmental abnormality Inferred relationship Some 3
    Coffin-Lowry syndrome Associated morphology False Developmental abnormality Inferred relationship Some
    Distal myopathy with posterior leg and anterior hand involvement Associated morphology False Developmental abnormality Inferred relationship Some 3
    Distal myopathy with early respiratory muscle involvement Associated morphology False Developmental abnormality Inferred relationship Some 3
    Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome Associated morphology False Developmental abnormality Inferred relationship Some 7
    Female Kallman's syndrome Associated morphology False Developmental abnormality Inferred relationship Some 1
    Congenital pyloric membrane Associated morphology False Developmental abnormality Inferred relationship Some 2
    Van den Bosch syndrome Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital dislocation of knee with genu recurvatum Associated morphology False Developmental abnormality Inferred relationship Some
    Microcephalus, digital anomaly, intellectual disability syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    XY type gonadal dysgenesis with associated anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital duplication of uterus Associated morphology False Developmental abnormality Inferred relationship Some 2
    Encephalocele of orbit Associated morphology False Developmental abnormality Inferred relationship Some 3
    46,XX disorder of sex development with skeletal anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    46,XX disorder of sex development with skeletal anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Premature tooth eruption Associated morphology False Developmental abnormality Inferred relationship Some 3
    46,XX disorder of sex development with anorectal anomalies syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acral dystrophic epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 5
    Congenital cerebellar hypoplasia Associated morphology False Developmental abnormality Inferred relationship Some 2

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