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

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