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199879009: Congenital anomaly of skin (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
307129017 Congenital anomaly of skin en Synonym Active Entire term case insensitive SNOMED CT core module
307130010 Congenital anomaly of skin, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
307131014 Genodermatosis, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
307132019 Congenital cutaneous anomaly en Synonym Active Entire term case insensitive SNOMED CT core module
307133012 Congenital malformation of the skin en Synonym Active Entire term case insensitive SNOMED CT core module
307134018 Congenital skin anomalies en Synonym Active Entire term case insensitive SNOMED CT core module
307135017 Congenital cutaneous anomaly, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
584557019 Congenital anomaly of skin (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

615 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skin Is a Disorder of skin true Inferred relationship Existential restriction modifier
Congenital anomaly of skin Is a Congenital anomaly of integument true Inferred relationship Existential restriction modifier
Congenital anomaly of skin Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital anomaly of skin Finding site Skin structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skin Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skin Is a Skin lesion false Inferred relationship Existential restriction modifier
Congenital anomaly of skin Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skin Finding site Skin structure false Inferred relationship Existential restriction modifier 1
Congenital anomaly of skin Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skin Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skin Finding site Skin structure false Inferred relationship Existential restriction modifier 2
Congenital anomaly of skin Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skin Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital anomaly of skin Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Disseminated superficial porokeratosis Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Porokeratosis of Mantoux Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Total congenital alopecia Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital deficiency of pigment of skin Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Aplasia cutis congenita Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Distichiasis Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Arteriovenous malformation of skin Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital hamartoma of skin Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital fecal fistula Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Kasabach-Merritt syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Cutis gyrata syndrome of Beare and Stevenson Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Simple syndactyly of fingers - second to fourth web Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Osseous syndactyly of fingers - first web Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Simple syndactyly of fingers - first web Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Webbed penis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital commissural pits Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Neck webbing Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital parameatal cyst Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital phimosis Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Hooded penis Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Preauricular dimple Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Microphthalmia with linear skin defect syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital club finger Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Dermatoleukodystrophy Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 34 Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Haim Munk syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Facial dysmorphism, cleft palate, loose skin syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Craniofaciofrontodigital syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Hereditary acantholytic dermatosis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Arthrogryposis hyperkeratosis syndrome lethal form Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Van den Bosch syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital alopecia with keratin cysts Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Disseminated superficial actinic porokeratosis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Osler hemorrhagic telangiectasia syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Wooly hair with palmoplantar keratoderma syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Palmoplantar keratoderma with clinodactyly syndrome Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Hereditary benign intraepithelial dyskeratosis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Porokeratosis of Mibelli, linear unilateral type Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Porokeratosis of Mibelli, superficial disseminated type Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Porokeratosis of Mibelli, plaque type Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital erosive and vesicular dermatosis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Median raphe cyst Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Autosomal recessive cutis laxa type 2B Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Localized abdominal wall skin atrophy Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Multiple pterygium syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital diffuse lipomatosis Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Encephalocraniocutaneous lipomatosis Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Leprechaunism syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Francois syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Cutis laxa, x-linked Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Erythrokeratodermia variabilis Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital hypertrophy of lateral fold of hallux Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital malalignment of great toenail Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Blepharophimosis epicanthus inversus ptosis syndrome plus Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Wrinkly skin syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Pulmonary tuberous sclerosis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Ash leaf spot, tuberous sclerosis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital extramedullary dermal hematopoiesis Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital malalignment of multiple toenails Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Blepharophimosis epicanthus inversus ptosis syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Palmoplantar hyperkeratosis sclerodactyly syndrome Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital cutaneous lymphangiectasia Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital infiltrating lipomatosis of face Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
Congenital malformation of lymphatic vessel of skin Is a True Congenital anomaly of skin Inferred relationship Existential restriction modifier
[X]Other specified congenital malformations of skin Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Other congenital skin anomalies Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Unspecified congenital anomalies of skin Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier
Other specified skin anomalies Is a False Congenital anomaly of skin Inferred relationship Existential restriction modifier

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