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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
307129017 Congenital anomaly of skin en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
307129017 Congenital anomaly of skin en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
307130010 Congenital anomaly of skin, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
307131014 Genodermatosis, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
307132019 Congenital cutaneous anomaly en Synonym (core metadata concept) Active Only initial character 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 Only initial character 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 Only initial character 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
307135017 Congenital cutaneous anomaly, NOS en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
584557019 Congenital anomaly of skin (disorder) en Fully specified name Active Only initial character 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
958551000195113 anomalia cutanea congenita it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
425631000274111 Angeborene Fehlbildung der Haut de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5001000172116 anomalie congénitale de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5001000172116 anomalie congénitale de la peau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
958551000195113 anomalia cutanea congenita it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
425631000274111 Angeborene Fehlbildung der Haut de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

653 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skin (disorder) Is a Disorder of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skin (disorder) Is a Congenital anomaly of integument true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skin (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skin (disorder) Finding site Skin structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skin (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skin (disorder) Is a Skin lesion false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of skin (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skin (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skin (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skin (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skin (disorder) Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of skin (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skin (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of skin (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Disseminated superficial porokeratosis (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Porokeratosis of Mantoux Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Total congenital alopecia Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital deficiency of pigment of skin Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis congenita (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distichiasis Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Arteriovenous malformation of skin Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hamartoma of skin (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital fecal fistula (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Kasabach-Merritt syndrome Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Simple syndactyly of fingers - second to fourth web (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osseous syndactyly of fingers - first web Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Simple syndactyly of fingers - first web (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Webbed penis Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital commissural pits (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Neck webbing (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital parameatal cyst Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital phimosis (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hooded penis Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Preauricular dimple Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital club finger (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Dermatoleukodystrophy Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An autosomal dominant cerebellar ataxia type I that is characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence. Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Haim Munk syndrome Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Keratosis follicularis, dwarfism, cerebral atrophy syndrome (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Facial dysmorphism, cleft palate, loose skin syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Craniofaciofrontodigital syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary acantholytic dermatosis (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
An extremely rare developmental defect during embryogenesis malformation syndrome with congenital muscular torticollis associated with skin anomalies (such as multiple keloids, pigmented nevi, epithelioma), urogenital malformations (including cryptorchidism and hypospadias) and renal dysplasia (for example chronic pyelonephritis, renal atrophy). Additional reported features include varicose veins, intellectual disability and musculoskeletal anomalies. Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Arthrogryposis hyperkeratosis syndrome lethal form Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Van den Bosch syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital alopecia with keratin cysts (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Disseminated superficial actinic porokeratosis Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Osler haemorrhagic telangiectasia syndrome Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wooly hair with palmoplantar keratoderma syndrome Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Porokeratosis of Mibelli, linear unilateral type Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Porokeratosis of Mibelli, superficial disseminated type Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Porokeratosis of Mibelli, plaque type Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital erosive and vesicular dermatosis (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Median raphe cyst (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Male emopamil-binding protein disorder with neurological defect Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported. Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive cutis laxa type 2B Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Localized abdominal wall skin atrophy Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple pterygium syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital diffuse lipomatosis (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Encephalocraniocutaneous lipomatosis Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Leprechaunism syndrome Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Francois syndrome Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cutis laxa, x-linked Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Erythrokeratodermia variabilis (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypertrophy of lateral fold of hallux Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malalignment of great toenail (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome plus (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Wrinkly skin syndrome Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary tuberous sclerosis (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ash leaf spot, tuberous sclerosis Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital extramedullary dermal haematopoiesis Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malalignment of multiple toenails (disorder) Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Blepharophimosis epicanthus inversus ptosis syndrome Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cutaneous lymphangiectasia Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital infiltrating lipomatosis of face (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of lymphatic vessel of skin (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bilateral congenital pigmented melanocytic naevus of skin of upper limbs Is a False Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pigmented melanocytic nevus of skin (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Familial anetoderma is an extremely rare genetic skin disease characterised by loss of elastin tissue leading to localised areas of flaccid skin and a family history of the disorder. Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Agenesis of interphalangeal skin crease Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of palmar crease Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of sweat gland Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia of skin of trunk Is a True Congenital anomaly of skin (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

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