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

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