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199879009: Congenital anomaly of skin (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
307129017 Congenital anomaly of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
307132019 Congenital cutaneous anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
307133012 Congenital malformation of the skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
307134018 Congenital skin anomalies en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
584557019 Congenital anomaly of skin (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

645 descendants. Search Descendants:

Expanded Value Set

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

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