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199879009: Congenital anomaly of skin (disorder)

Status: current, Defined. Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

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

615 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skin Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skin Pathological process Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of skin Associated morphology Congenital anomaly false Inferred relationship Some 1
Congenital anomaly of skin Is a Disorder of skin true Inferred relationship Some
Congenital anomaly of skin Is a Congenital anomaly of integument true Inferred relationship Some
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
Congenital anomaly of skin Finding site Skin structure true Inferred relationship Some 1
Congenital anomaly of skin Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skin Associated morphology Developmental abnormality 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
Inbound Relationships Type Active Source Characteristic Refinability Group
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a True Congenital anomaly of skin Inferred relationship Some
Arthrogryposis hyperkeratosis syndrome lethal form Is a True Congenital anomaly of skin Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Van den Bosch syndrome 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 Is a False Congenital anomaly of skin Inferred relationship Some
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma Is a True Congenital anomaly of skin Inferred relationship Some
Disseminated superficial actinic porokeratosis Is a True Congenital anomaly of skin Inferred relationship Some
Hennekam Beemer syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Osler haemorrhagic telangiectasia syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Woolly hair with palmoplantar keratoderma syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Keratosis palmaris et plantaris with clinodactyly syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a True Congenital anomaly of skin Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome 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 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 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
RIN2 syndrome 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
Localised 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 Is a False Congenital anomaly of skin Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome plus 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 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 Is a True Congenital anomaly of skin Inferred relationship Some
Congenital extramedullary dermal haematopoiesis Is a True Congenital anomaly of skin Inferred relationship Some
Congenital malalignment of multiple toenails Is a False Congenital anomaly of skin Inferred relationship Some
Blepharophimosis epicanthus inversus ptosis syndrome Is a True Congenital anomaly of skin Inferred relationship Some
Palmoplantar hyperkeratosis sclerodactyly syndrome 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 Is a True Congenital anomaly of skin Inferred relationship Some
Congenital anomaly of cutaneous lymphatics Is a True Congenital anomaly of skin Inferred relationship Some
Hooded penis Is a False Congenital anomaly of skin Inferred relationship Some
Mandibuloacral dysostosis Is a False Congenital anomaly of skin Inferred relationship Some
Congenital commissural pits Is a False Congenital anomaly of skin Inferred relationship Some
Lip pits Is a False Congenital anomaly of skin Inferred relationship Some
Patent urachal duct Is a False Congenital anomaly of skin Inferred relationship Some
Genitoperineal raphe cyst Is a False Congenital anomaly of skin Inferred relationship Some
Lumpy scalp syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Congenital ichthyosis of skin Is a False Congenital anomaly of skin Inferred relationship Some
Congenital phimosis Is a False Congenital anomaly of skin Inferred relationship Some
Short preputial frenulum Is a False Congenital anomaly of skin Inferred relationship Some
Geroderma osteodysplastica Is a False Congenital anomaly of skin Inferred relationship Some
Congenital vascular naevus Is a False Congenital anomaly of skin Inferred relationship Some
Cavernous lymphangioma of skin Is a True Congenital anomaly of skin Inferred relationship Some
Cyanotic congenital heart disease Is a False Congenital anomaly of skin Inferred relationship Some
Preauricular cyst Is a False Congenital anomaly of skin Inferred relationship Some
Nail-patella syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Goltz syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Ehlers-Danlos syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Cervical auricle Is a False Congenital anomaly of skin Inferred relationship Some
Congenital hyperplasia of sebaceous glands of lip Is a True Congenital anomaly of skin Inferred relationship Some
Accessory tragus of ear Is a False Congenital anomaly of skin Inferred relationship Some
Patent urachus Is a False Congenital anomaly of skin Inferred relationship Some
Redundant prepuce Is a False Congenital anomaly of skin Inferred relationship Some
Klippel-Trenaunay-Weber syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Dermatofibrosis lenticularis disseminata Is a False Congenital anomaly of skin Inferred relationship Some
Congenital oculocutaneous hypopigmentation Is a False Congenital anomaly of skin Inferred relationship Some
Hajdu-Cheney syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Naevus unius lateris Is a False Congenital anomaly of skin Inferred relationship Some
Pilonidal cyst without abscess Is a False Congenital anomaly of skin Inferred relationship Some
Pilonidal cyst with abscess Is a False Congenital anomaly of skin Inferred relationship Some
Congenital melanosis Is a False Congenital anomaly of skin Inferred relationship Some
Capillary fragility abnormality Is a False Congenital anomaly of skin Inferred relationship Some
Congenital pigmentary skin anomalies Is a True Congenital anomaly of skin Inferred relationship Some
Congenital deficiency of pigment of skin Is a False Congenital anomaly of skin Inferred relationship Some
Fistula of congenital auricle Is a False Congenital anomaly of skin Inferred relationship Some
Synophrys Is a True Congenital anomaly of skin Inferred relationship Some
Absent eyebrow Is a False Congenital anomaly of skin Inferred relationship Some
Double eyebrow Is a True Congenital anomaly of skin Inferred relationship Some
Congenital anomaly of nail Is a True Congenital anomaly of skin Inferred relationship Some
Incontinentia pigmenti syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Naevus anaemicus Is a False Congenital anomaly of skin Inferred relationship Some
Mixed haemangioma Is a False Congenital anomaly of skin Inferred relationship Some
Unilateral segmental cavernous haemangioma Is a False Congenital anomaly of skin Inferred relationship Some
Verrucous haemangioma of skin Is a False Congenital anomaly of skin Inferred relationship Some
Gorham's disease Is a False Congenital anomaly of skin Inferred relationship Some
Angiokeratoma circumscriptum Is a False Congenital anomaly of skin Inferred relationship Some
Cutis marmorata Is a False Congenital anomaly of skin Inferred relationship Some
Congenital skin fragility of animals Is a False Congenital anomaly of skin Inferred relationship Some
Naevus comedonicus Is a False Congenital anomaly of skin Inferred relationship Some
Angioma serpiginosum Is a False Congenital anomaly of skin Inferred relationship Some
Werner syndrome Is a True Congenital anomaly of skin Inferred relationship Some
Ataxia-telangiectasia syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Ehlers-Danlos syndrome Is a True Congenital anomaly of skin Inferred relationship Some
Patent urachus Is a False Congenital anomaly of skin Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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