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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
    Punctate palmoplantar keratoderma (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False anomalie du développement Inferred relationship Some 4
    Weber-Cockayne syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Curry-Hall syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Dermodental dysplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Ulerythema Associated morphology False anomalie du développement Inferred relationship Some 6
    Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Atrophoderma vermiculatum Associated morphology False anomalie du développement Inferred relationship Some 4
    Familial dyskeratotic comedones Associated morphology False anomalie du développement Inferred relationship Some 6
    Autosomal dominant mutilating keratoderma Associated morphology False anomalie du développement Inferred relationship Some 3
    Nail dystrophy due to Darier's disease (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Triphalangeal thumbs with onychodystrophy Associated morphology False anomalie du développement Inferred relationship Some 3
    Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology False anomalie du développement Inferred relationship Some 2
    Generalized recessive non-mutilating dystrophic epidermolysis bullosa (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital palmoplantar and perioral keratoderma of Olmsted Associated morphology False anomalie du développement Inferred relationship Some 3
    Tricho-dento-osseous syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Keratosis pilaris Associated morphology False anomalie du développement Inferred relationship Some 4
    Odonto-onycho-dermal dysplasia (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Circumscribed palmoplantar keratoderma Associated morphology False anomalie du développement Inferred relationship Some 2
    Hidrotic ectodermal dysplasia syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Localised junctional epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Acromelanosis Associated morphology False anomalie du développement Inferred relationship Some 4
    Generalized epidermolysis bullosa simplex Associated morphology False anomalie du développement Inferred relationship Some 3
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Hypohidrosis with neurolabyrinthitis Associated morphology False anomalie du développement Inferred relationship Some 3
    Salamon's syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Flexural Darier's disease (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Associated morphology False anomalie du développement Inferred relationship Some 5
    Epidermolysis bullosa simplex Associated morphology False anomalie du développement Inferred relationship Some 3
    Dermatopathia pigmentosa reticularis Associated morphology False anomalie du développement Inferred relationship Some 3
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Interrupted left inferior vena cava (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Cicatricial junctional epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital keratoderma Associated morphology False anomalie du développement Inferred relationship Some 3
    Progressive palmoplantar keratoderma of Greither Associated morphology False anomalie du développement Inferred relationship Some 2
    Epidermolysis bullosa simplex herpetiformis Associated morphology False anomalie du développement Inferred relationship Some 3
    Erythrokeratoderma progressiva of Gottron Associated morphology False anomalie du développement Inferred relationship Some 2
    Adult junctional epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Epidermolytic palmoplantar keratoderma of Vorner Associated morphology False anomalie du développement Inferred relationship Some 2
    Hereditary follicular keratoses Associated morphology False anomalie du développement Inferred relationship Some 3
    Ectodermal dysplasia with hair-tooth defects Associated morphology False anomalie du développement Inferred relationship Some 2
    Autosomal dominant epidermolysis bullosa simplex (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Pachyonychia congenita type II of Jackson-Lawler (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Keratolysis exfoliativa Associated morphology False anomalie du développement Inferred relationship Some 2
    Generalized junctional epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Palmoplantar hyperkeratosis-hyperpigmentation syndrome of Cantu (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Dominant dystrophic epidermolysis bullosa, albopapular type Associated morphology False anomalie du développement Inferred relationship Some 3
    Epidermolysis bullosa simplex with neuromuscular disease Associated morphology False anomalie du développement Inferred relationship Some 3
    Linear/nevoid/zosteriform Darier's disease (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Diffuse palmoplantar keratoderma of Thost-Unna (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Inherited disorder of keratinisation Associated morphology False anomalie du développement Inferred relationship Some 2
    Hereditary erythrokeratolysis Associated morphology False anomalie du développement Inferred relationship Some 2
    Pretibial epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Pachydermoperiostosis of nail Associated morphology False anomalie du développement Inferred relationship Some 4
    Keratolytic winter erythema Associated morphology False anomalie du développement Inferred relationship Some 2
    Acrokeratosis verruciformis of Darier disease (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Hereditary diffuse palmoplantar keratoderma (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Darier disease Associated morphology False anomalie du développement Inferred relationship Some 3
    Dyschromatosis universalis Associated morphology False anomalie du développement Inferred relationship Some 3
    Generalized dystrophic epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False anomalie du développement Inferred relationship Some 3
    Ectodermal dysplasia with hair-nail defect Associated morphology False anomalie du développement Inferred relationship Some 2
    Keratosis pilaris with ichthyosis and deafness Associated morphology False anomalie du développement Inferred relationship Some 4
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Sandman-Andra syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Erythrokeratoderma en cocardes (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Localised recessive dystrophic epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Acral Darier's disease (disorder) Associated morphology False anomalie du développement Inferred relationship Some 3
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Tricho-oculodermovertebral syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Primary seborrhea Associated morphology False anomalie du développement Inferred relationship Some 2
    Ulerythema of cheeks Associated morphology False anomalie du développement Inferred relationship Some 7
    Hereditary palmoplantar keratoderma Associated morphology False anomalie du développement Inferred relationship Some 2
    Hereditary acantholytic dermatosis Associated morphology False anomalie du développement Inferred relationship Some 2
    Inherited cutaneous hyperpigmentation Associated morphology False anomalie du développement Inferred relationship Some 3
    Congenital junctional epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Multiple benign annular creases of extremities Associated morphology False anomalie du développement Inferred relationship Some 2
    Localised dystrophic epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Dominant dystrophic epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Schoepf-Schulz-Passage syndrome Associated morphology False anomalie du développement Inferred relationship Some 2
    Keratoderma with pachyonychia congenita Associated morphology False anomalie du développement Inferred relationship Some 3
    Keratosis pilaris decalvans Associated morphology False anomalie du développement Inferred relationship Some 4
    Tricho-onychodental dysplasia Associated morphology False anomalie du développement Inferred relationship Some 2
    Keratoderma punctata Associated morphology False anomalie du développement Inferred relationship Some 3
    Inverse junctional epidermolysis bullosa Associated morphology False anomalie du développement Inferred relationship Some 3
    Talipes equinocavovarus Associated morphology False anomalie du développement Inferred relationship Some 4
    Discontinuity between mitral valve and pulmonary valve (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Discontinuity between mitral valve and pulmonary valve (disorder) Associated morphology False anomalie du développement Inferred relationship Some 2
    Porokeratosis of Mibelli, plaque type Associated morphology False anomalie du développement Inferred relationship Some 4
    Porokeratosis of Mibelli, linear unilateral type Associated morphology False anomalie du développement Inferred relationship Some 4
    Porokeratosis of Mibelli, superficial disseminated type Associated morphology False anomalie du développement Inferred relationship Some 4
    Congenital malformation of dural sinus Associated morphology False anomalie du développement Inferred relationship Some 1
    Peripheral venous malformation Associated morphology False anomalie du développement Inferred relationship Some 1
    Congenital intracranial vascular malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Phakomatosis cesioflammea Associated morphology False anomalie du développement Inferred relationship Some 5
    Phakomatosis spilorosea Associated morphology False anomalie du développement Inferred relationship Some 5
    Phakomatosis caesiomarmorata Associated morphology False anomalie du développement Inferred relationship Some 5
    Diffuse lymphatic malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1
    Cutaneous capillary malformation (disorder) Associated morphology False anomalie du développement Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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