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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
    Aganglionosis of Auerbach's plexus Associated morphology False Developmental abnormality Inferred relationship Some 4
    Atrial septal defect through coronary sinus orifice Associated morphology False Developmental abnormality Inferred relationship Some 3
    Accessory tissue on truncal valve cusp Associated morphology False Developmental abnormality Inferred relationship Some 2
    Right posterior open bite Associated morphology False Developmental abnormality Inferred relationship Some 2
    Left posterior open bite Associated morphology False Developmental abnormality Inferred relationship Some 2
    Agnathus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Synotus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Derencephalus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Marshall syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Atretocephalus Associated morphology False Developmental abnormality Inferred relationship Some 3
    Penile hypospadias Associated morphology False Developmental abnormality Inferred relationship Some 4
    Acephalothorax Associated morphology False Developmental abnormality Inferred relationship Some 4
    Monster with cranial anomalies Associated morphology False Developmental abnormality Inferred relationship Some 3
    Prader-Willi syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acephalogaster Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital hernia of foramen of Morgagni Associated morphology False Developmental abnormality Inferred relationship Some 7
    Congenital hernia of foramen of Bochdalek Associated morphology False Developmental abnormality Inferred relationship Some 7
    Ectromelia of upper limb Associated morphology False Developmental abnormality Inferred relationship Some 4
    Completely unroofed coronary sinus defect in left atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Completely unroofed coronary sinus defect in left atrium Associated morphology False Developmental abnormality Inferred relationship Some 3
    Congenital hydrocephalus due to toxoplasmosis Associated morphology False Developmental abnormality Inferred relationship Some 4
    Coronary sinus defect in left atrium Associated morphology False Developmental abnormality Inferred relationship Some 2
    Coronary sinus defect in left atrium Associated morphology False Developmental abnormality Inferred relationship Some 3
    Acephalobrachius Associated morphology False Developmental abnormality Inferred relationship Some 3
    Vestigial gastrointestinal remnant Associated morphology False Developmental abnormality Inferred relationship Some 3
    Persistent Gartner's duct Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ulerythema ophryogenes Associated morphology False Developmental abnormality Inferred relationship Some 5
    Ectodermal dysplasia with tooth-nail-sweating defect Associated morphology False Developmental abnormality Inferred relationship Some 2
    Dyskeratosis congenita Associated morphology False Developmental abnormality Inferred relationship Some 3
    Symmetrical dyschromatosis of extremities Associated morphology False Developmental abnormality Inferred relationship Some 3
    Epidermolysis simplex superficialis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Dento-oculocutaneous syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Epidermolysis bullosa simplex with mottled pigmentation Associated morphology False Developmental abnormality Inferred relationship Some 3
    Progressive junctional epidermolysis bullosa (neurotrophic) Associated morphology False Developmental abnormality Inferred relationship Some 3
    Berlin syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital clubbing Associated morphology False Developmental abnormality Inferred relationship Some 3
    Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex Associated morphology False Developmental abnormality Inferred relationship Some 3
    Palmar pitting due to Darier disease Associated morphology False Developmental abnormality Inferred relationship Some 3
    Left atrial appendage - right - juxtaposition Associated morphology False Developmental abnormality Inferred relationship Some 2
    Epidermolysis bullosa simplex, Ogna type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Familial benign pemphigus Associated morphology False Developmental abnormality Inferred relationship Some 4
    Congenital ichthyosiform erythroderma Associated morphology False Developmental abnormality Inferred relationship Some 2
    Keratosis pilaris atrophicans Associated morphology False Developmental abnormality Inferred relationship Some 4
    Epidermolysis bullosa simplex of the hands and feet Associated morphology False Developmental abnormality Inferred relationship Some 3
    Keratosis rubra pilaris Associated morphology False Developmental abnormality Inferred relationship Some 5
    Endocardial fibroelastosis of left atrium Associated morphology False Developmental abnormality Inferred relationship Some 3
    Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Associated morphology False Developmental abnormality Inferred relationship Some 2
    Basan syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Recessive dystrophic epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 3
    Odontotrichomelic syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Junctional epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 3
    Epidermolysis bullosa simplex with hypodontia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Ichthyosiform erythroderma Associated morphology False Developmental abnormality Inferred relationship Some 2
    Dominant dystrophic epidermolysis bullosa with absence of skin Associated morphology False Developmental abnormality Inferred relationship Some 3
    Keratoderma plantare sulcata Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ectodermal dysplasia with nail defect Associated morphology False Developmental abnormality Inferred relationship Some 2
    Kirman syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ectodermal dysplasia with sweating defect Associated morphology False Developmental abnormality Inferred relationship Some 2
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Pachyonychia congenita syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Naegeli-Franceschetti-Jadassohn syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Ectodermal dysplasia with tooth-nail defects Associated morphology False Developmental abnormality Inferred relationship Some 2
    Lethal autosomal recessive epidermolysis bullosa simplex Associated morphology False Developmental abnormality Inferred relationship Some 3
    Papillon-Lefèvre syndrome Associated morphology False Developmental abnormality Inferred relationship Some 4
    Flynn-Aird syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False Developmental abnormality Inferred relationship Some 2
    Dystrophic epidermolysis bullosa inverse type Associated morphology False Developmental abnormality Inferred relationship Some 3
    Laryngo-onychocutaneous syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Cranioectodermal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 3
    Inherited epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 3
    Epidermolysis bullosa pruriginosa Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hereditary clubbing Associated morphology False Developmental abnormality Inferred relationship Some 2
    Congenital ectodermal dysplasia of face Associated morphology False Developmental abnormality Inferred relationship Some 2
    Genodermatosis Associated morphology False Developmental abnormality Inferred relationship Some 2
    Keratoderma areata Associated morphology False Developmental abnormality Inferred relationship Some 3
    Generalised recessive dystrophic epidermolysis bullosa mitis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Erythrokeratodermia variabilis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Greither type of ectodermal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Howel-Evans' syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Interrupted right inferior caval vein Associated morphology False Developmental abnormality Inferred relationship Some 2
    Junctional epidermolysis bullosa mitis Associated morphology False Developmental abnormality Inferred relationship Some 3
    Reticulate pigmented anomaly of flexures Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False Developmental abnormality Inferred relationship Some 2
    Fried's tooth and nail syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Progressive recessive dystrophic epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 3
    Palmoplantar hyperkeratosis sclerodactyly syndrome Associated morphology False Developmental abnormality Inferred relationship Some 3
    Pachyonychia congenita type III of Schafer-Brunauer Associated morphology False Developmental abnormality Inferred relationship Some 3
    Dystrophic epidermolysis bullosa Associated morphology False Developmental abnormality Inferred relationship Some 3
    Hypertrophic Darier's disease Associated morphology False Developmental abnormality Inferred relationship Some 3
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False Developmental abnormality Inferred relationship Some 2
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Erythrokeratoderma Associated morphology False Developmental abnormality Inferred relationship Some 2
    Keratoderma with deafness Associated morphology False Developmental abnormality Inferred relationship Some 2
    Junctional epidermolysis bullosa gravis of Herlitz Associated morphology False Developmental abnormality Inferred relationship Some 3
    Familial focal facial dermal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2
    Acrokeratosis verruciformis of Hopf Associated morphology False Developmental abnormality Inferred relationship Some 3
    Trichodental syndrome Associated morphology False Developmental abnormality Inferred relationship Some 2
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Developmental abnormality Inferred relationship Some 2
    Ectodermal dysplasia Associated morphology False Developmental abnormality Inferred relationship Some 2

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