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21390004: Developmental anomaly (morphologic abnormality)

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

    Descriptions:

    Id Description Lang Type Status Case? Module
    183282017 Developmental anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190336012 Developmental malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190337015 Developmental defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190338013 Dysgenesis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190339017 Anomalous formation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190340015 Abnormal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    190341016 Malformation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    750678013 Developmental anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    1208681014 Developmental abnormality en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
    64781000077117 anomalie du développement fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

    0 descendants.

    Expanded Value Set

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

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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