FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.2  |  FHIR Version n/a  User: [n/a]

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
2003481000005115 Kongenit anomali i huden da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


653 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 kongenit anomali false Inferred relationship Some 1
Congenital anomaly of skin Is a Skin lesion (disorder) false Inferred relationship Some
Congenital anomaly of skin Associated morphology kongenit anomali 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 dysgenese 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 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
Porokeratose (Mantoux' syndrom) Is a False Congenital anomaly of skin Inferred relationship Some
Kongenit total alopeci 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 Is a False Congenital anomaly of skin Inferred relationship Some
Hooded penis Is a False Congenital anomaly of skin Inferred relationship Some
Preauricular dimple Is a True Congenital anomaly of skin Inferred relationship Some
A rare X-linked, syndromic eye disorder characterized 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 Inferred relationship Some
Congenital club finger (disorder) Is a False Congenital anomaly of skin Inferred relationship Some
A rare leukodystrophy characterized by congenital thickened, wrinkled skin showing loss of elasticity, in combination with childhood onset of rapidly progressive generalized cognitive and motor impairment quickly resulting in a vegetative state and early death. Neuropathologic examination reveals neuroaxonal leukodystrophy with numerous neuroaxonal spheroids and diffuse loss of axons and myelin sheaths. Is a True Congenital anomaly of skin Inferred relationship Some
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma. Is a False Congenital anomaly of skin Inferred relationship Some
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 Inferred relationship Some
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 Inferred relationship Some
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis. Is a True Congenital anomaly of skin Inferred relationship Some
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974. Is a False Congenital anomaly of skin Inferred relationship Some
Dysmorphism-cleft palate-loose skin syndrome is a rare, genetic developmental defect during embryogenesis characterized by severe psychomotor delay, intellectual disability, congenital, symmetrical circumferential skin creases of arms and legs, cleft palate, and facial dysmorphism (including elongated face, high forehead, blepharophimosis, short palpebral fissures, microphthalmia, microcornea, epicanthic folds, telecanthus, microtia, posteriorly angulated ears, broad nasal bridge, microstomia and micrognathia). Additional features reported include short stature, microcephaly, hypotonia, pectus excavatum, severe scoliosis, hypoplastic scrotum, and mixed hearing loss. Is a True Congenital anomaly of skin Inferred relationship Some
Craniofaciofrontodigital syndrome is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies). Is a True Congenital anomaly of skin Inferred relationship Some
Hereditary acantholytic dermatosis Is a True Congenital anomaly of skin Inferred relationship Some
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 Inferred relationship Some
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. Is a True Congenital anomaly of skin Inferred relationship Some
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993. Is a True Congenital anomaly of skin Inferred relationship Some
A rare developmental defect during embryogenesis characterized by macrostomia or abnormal mouth contour, preauricular tags or pits, and uni- or bilateral ptosis due to external ophthalmoplegia. This syndrome belongs to the oculoauriculovertebral spectrum, a developmental disorder affecting the structures derived from the first and second branchial arches. Is a False Congenital anomaly of skin Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. 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
A rare genetic developmental defect during embryogenesis. A syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990. 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
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 Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized 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 Inferred relationship Some
Osler hemorrhagic telangiectasia syndrome Is a False Congenital anomaly of skin Inferred relationship Some
Wooly hair-palmoplantar keratoderma syndrome is a very rare, hereditary epidermal disorder characterized by hypotrichosis/wooly scalp hair, sparse body hair, eyelashes and eyebrows, leukonychia, and striate palmoplantar keratoderma (more severe on the soles than the palms), which progressively worsens with age. Pseudo ainhum of the fifth toes was also reported. Although wooly hair-palmoplantar keratoderma syndrome shares clinical similarities with both Naxos disease and Carvajal syndrome, cardiomyopathy is notably absent. Is a False Congenital anomaly of skin Inferred relationship Some
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant. 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
A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others. Is a True Congenital anomaly of skin Inferred relationship Some
Mibellis porokeratose, unilateral lineær type Is a False Congenital anomaly of skin Inferred relationship Some
Mibellis porokeratose, dissemineret superficiel type Is a False Congenital anomaly of skin Inferred relationship Some
Mibellis porokeratose, plaquetype Is a False Congenital anomaly of skin Inferred relationship Some
A rare idiopathic skin disease with characteristics of widespread, congenital, superficial erosions and vesicles (often involving more than 75% of the body) which heal leaving scars with a supple, symmetrical, reticulated pattern, frequently resulting in cicatricial alopecia and hyperthermia and/or hypohidrosis. Nail anomalies, neurodevelopmental and ophthalmologic abnormalities, tongue atrophy and preterm birth, with or without history of chorioamnionitis, are commonly associated. Is a True Congenital anomaly of skin Inferred relationship Some
A rare genetic syndromic intellectual disability disorder with characteristics of mild to profound intellectual disability, delayed speech, obesity, ocular anomalies (blepharophimosis, blepharoptosis, hyperopic astigmatism, decreased visual acuity, strabismus, abducens nerve palsy, and/or accommodative esotropia), and dermal manifestations, such as chronic atopic dermatitis. Associated craniofacial dysmorphism includes macrocephaly, maxillary hypoplasia, mandibular prognathism and crowding of teeth. Is a True Congenital anomaly of skin Inferred relationship Some
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 Inferred relationship Some
Median raphe cyst (disorder) Is a True Congenital anomaly of skin Inferred relationship Some
A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11. Is a True Congenital anomaly of skin Inferred relationship Some
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 Inferred relationship Some
A rare hereditary developmental defect with connective tissue involvement and characteristics of cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. Is a True Congenital anomaly of skin Inferred relationship Some
lokaliseret hudatrofi på abdominalvæggen 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 (disorder) 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
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Is a False Congenital anomaly of skin Inferred relationship Some
Wrinkly skin syndrome (disorder) 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
A rare contiguous gene syndrome involving a partial deletion of chromosome 16 and characterized by early-onset and severe polycystic kidney disease with various manifestations of tuberous sclerosis (multiple angiomyolipomas, lymphangioleiomyomatosis and periventricular calcifications of the central nervous system). 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
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). 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
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. 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
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant. 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
Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. Is a True Congenital anomaly of skin Inferred relationship Some
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985. Is a True Congenital anomaly of skin Inferred relationship Some
Agenesis of interphalangeal skin crease (disorder) Is a True Congenital anomaly of skin Inferred relationship Some
Aplasia of palmar crease Is a True Congenital anomaly of skin Inferred relationship Some
Aplasia of sweat gland Is a True Congenital anomaly of skin Inferred relationship Some
Aplasia of skin of trunk Is a True Congenital anomaly of skin Inferred relationship Some

Start Page 2 of 2


Reference Sets

GB English

US English

Back to Start