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21390004: Developmental anomaly (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Developmental anomaly Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Developmental anomaly Is a Morphologically abnormal structure false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Derencephalus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Marshall syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Atretocephalus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Penile hypospadias Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Acephalothorax Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Monster with cranial anomalies Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Prader-Willi syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Acephalogaster Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital hernia of foramen of Morgagni Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Congenital hernia of foramen of Bochdalek Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 7
    Ectromelia of upper limb Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Completely unroofed coronary sinus defect in left atrium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Completely unroofed coronary sinus defect in left atrium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Congenital hydrocephalus caused by toxoplasmosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Coronary sinus defect in left atrium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Coronary sinus defect in left atrium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Acephalobrachius Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Vestigial gastrointestinal remnant Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Persistent Gartner's duct Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Ulerythema ophryogenes Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Ectodermal dysplasia with tooth-nail-sweating defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Dyskeratosis congenita Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Symmetrical dyschromatosis of extremities Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Epidermolysis simplex superficialis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Dento-oculocutaneous syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Epidermolysis bullosa simplex with mottled pigmentation Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Progressive junctional epidermolysis bullosa (neurotrophic) Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Berlin syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital clubbing Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Keratoderma due to Dowling-Meara type epidermolysis bullosa simplex Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Palmar pitting due to Darier disease Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Left atrial appendage - right - juxtaposition Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Epidermolysis bullosa simplex, Ogna type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Familial benign pemphigus Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Congenital ichthyosiform erythroderma Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Keratosis pilaris atrophicans Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Epidermolysis bullosa simplex of the hands AND/OR feet Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Keratosis rubra pilaris Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 5
    Endocardial fibroelastosis of left atrium Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Papuloverrucous palmoplantar keratoderma of Jakac-Wolf Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Basan syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Recessive dystrophic epidermolysis bullosa Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Odontotrichomelic syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Junctional epidermolysis bullosa Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Epidermolysis bullosa simplex with hypodontia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Ichthyosiform erythroderma Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Dominant dystrophic epidermolysis bullosa with absence of skin Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Keratoderma plantare sulcata Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ectodermal dysplasia with nail defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Kirman syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ectodermal dysplasia with sweating defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Pachyonychia congenita syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Naegeli-Franceschetti-Jadassohn syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Ectodermal dysplasia with tooth-nail defects Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Lethal autosomal recessive epidermolysis bullosa simplex Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Papillon-Lefèvre syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Flynn-Aird syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Dystrophic epidermolysis bullosa inverse type Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Laryngo-onychocutaneous syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Cranioectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Inherited epidermolysis bullosa Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Epidermolysis bullosa pruriginosa Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hereditary clubbing Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Congenital ectodermal dysplasia of face Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Genodermatosis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Keratoderma areata Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Generalized recessive dystrophic epidermolysis bullosa mitis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Erythrokeratodermia variabilis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Greither type of ectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Howel-Evans' syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Interrupted right inferior vena cava Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Junctional epidermolysis bullosa mitis Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Reticulate pigmented anomaly of flexures Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Fried's tooth and nail syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Progressive recessive dystrophic epidermolysis bullosa Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Palmoplantar hyperkeratosis sclerodactyly syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Pachyonychia congenita type III of Schafer-Brunauer Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Dystrophic epidermolysis bullosa Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Hypertrophic Darier's disease Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Erythrokeratoderma Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Keratoderma with deafness Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Junctional epidermolysis bullosa gravis of Herlitz Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Familial focal facial dermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Acrokeratosis verruciformis of Hopf Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Trichodental syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Ectodermal dysplasia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Acroerythrokeratoderma Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Keratoderma with mental retardation and spastic paraplegia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Moynahan's syndrome Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Odonto-onychial dysplasia with alopecia Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 4
    Mutilating keratoderma Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 3
    Palmoplantar keratoderma transgrediens Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2
    Punctate palmoplantar keratoderma Associated morphology False Developmental anomaly Inferred relationship Existential restriction modifier 2

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