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363185004: Hereditary disorder of the integument (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
482325014 Hereditary disorder of the integument en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5229841000241116 affection héréditaire du tégument fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

660 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the integument Is a Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the integument Is a Disorder of integument true Inferred relationship Some
Hereditary disorder of the integument Finding site Structure of integumentary system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Progeria Is a False Hereditary disorder of the integument Inferred relationship Some
Mandibuloacral dysostosis Is a True Hereditary disorder of the integument Inferred relationship Some
Marfan's syndrome affecting skin Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary sclerosing poikiloderma Is a True Hereditary disorder of the integument Inferred relationship Some
Congenital ichthyosis of skin Is a False Hereditary disorder of the integument Inferred relationship Some
Albinism Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Wiskott-Aldrich syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary acrodermatitis enteropathica Is a True Hereditary disorder of the integument Inferred relationship Some
Lipid proteinosis Is a True Hereditary disorder of the integument Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Xeroderma pigmentosum Is a True Hereditary disorder of the integument Inferred relationship Some
Cutis laxa Is a False Hereditary disorder of the integument Inferred relationship Some
Menkes kinky-hair syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa Is a True Hereditary disorder of the integument Inferred relationship Some
Porphyria cutanea tarda Is a False Hereditary disorder of the integument Inferred relationship Some
Xanthomatosis Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis Is a False Hereditary disorder of the integument Inferred relationship Some
Gorlin syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary coproporphyria Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary edema of legs Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Neurocutaneous syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Farber's lipogranulomatosis Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Is a False Hereditary disorder of the integument Inferred relationship Some
Familial chronic mucocutaneous candidiasis - dominant type Is a False Hereditary disorder of the integument Inferred relationship Some
Familial chronic mucocutaneous candidiasis - recessive type Is a False Hereditary disorder of the integument Inferred relationship Some
Fabry's disease Is a True Hereditary disorder of the integument Inferred relationship Some
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Is a True Hereditary disorder of the integument Inferred relationship Some
Cholestanol storage disease Is a False Hereditary disorder of the integument Inferred relationship Some
Sitosterolemia with xanthomatosis Is a False Hereditary disorder of the integument Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant mutilating keratoderma Is a False Hereditary disorder of the integument Inferred relationship Some
Familial Mediterranean fever Is a False Hereditary disorder of the integument Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Drug-induced pseudoporphyria Is a False Hereditary disorder of the integument Inferred relationship Some
Familial multiple polyposis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Premature aging syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary benign intraepithelial dyskeratosis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial amyloid polyneuropathy with cutaneous amyloidosis (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Pseudoporphyria due to PUVA therapy Is a False Hereditary disorder of the integument Inferred relationship Some
Porphyria-like reaction caused by poison and/or environmental toxin Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Familial acantholysis Is a True Hereditary disorder of the integument Inferred relationship Some
Cutis laxa, autosomal dominant Is a False Hereditary disorder of the integument Inferred relationship Some
Cutis laxa, autosomal recessive Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Hypopigmentation-immunodeficiency disease Is a False Hereditary disorder of the integument Inferred relationship Some
Ocular albinism-lentigines-deafness syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
albinoïdisme Is a False Hereditary disorder of the integument Inferred relationship Some
Oculocutaneous albinism Is a True Hereditary disorder of the integument Inferred relationship Some
Hemodialysis-associated pseudoporphyria (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
A very rare subtype of Waardenburg syndrome (WS) with characteristics of limb anomalies in association with congenital hearing loss, minor defects in structures arising from neural crest, resulting in pigmentation anomalies of eyes, hair, and skin. Caused by heterozygous or homozygous mutations in the PAX3 (2q36.1) gene. Is a False Hereditary disorder of the integument Inferred relationship Some
Reticulate acropigmentation of Kitamura Is a True Hereditary disorder of the integument Inferred relationship Some
Multiple lentigines syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Pili torti-deafness syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ataxia-telangiectasia syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Steatocystoma multiplex Is a True Hereditary disorder of the integument Inferred relationship Some
Familial cold urticaria Is a True Hereditary disorder of the integument Inferred relationship Some
Pachydermoperiostosis (PDP) is a form of primary hypertrophic osteoarthropathy, a rare hereditary disorder, and is characterised by digital clubbing, pachydermia and subperiosteal new bone formation associated with pain, polyarthritis, cutis verticis gyrata, seborrhoea and hyperhidrosis. Three forms have been described: a complete form with pachydermia and periostitis, an incomplete form with evidence of bone abnormalities but lacking pachydermia, and a forme fruste with prominent pachydermia and minimal-to-absent skeletal changes. Is a True Hereditary disorder of the integument Inferred relationship Some
Osler hemorrhagic telangiectasia syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Ultraviolet sensitive syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Hereditary disorder of the integument Inferred relationship Some
Dyskeratosis congenita Is a True Hereditary disorder of the integument Inferred relationship Some
Follicular atrophoderma and basal cell epitheliomata Is a True Hereditary disorder of the integument Inferred relationship Some
Multiple self-healing epithelioma of Ferguson-Smith Is a True Hereditary disorder of the integument Inferred relationship Some
B-K mole (nevus) syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Schinzel-Giedion syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Rothmund-Thomson syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
A distinct form of Crouzon disease associated with acanthosis nigricans caused by a specific mutation (p.Ala391Glu) in the transmembrane domain of FGFR3. The disease is transmitted in an autosomal dominant manner with variable penetrance. Is a True Hereditary disorder of the integument Inferred relationship Some
A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant familial woolly hair Is a True Hereditary disorder of the integument Inferred relationship Some
Disseminated superficial porokeratosis Is a False Hereditary disorder of the integument Inferred relationship Some
Von Hippel-Lindau syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Peutz-Jeghers syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Tuberous sclerosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Congenital reticular ichthyosiform erythroderma (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a False Hereditary disorder of the integument Inferred relationship Some
Brooke-Spiegler syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Capillary malformation-arteriovenous malformation syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Legius syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Acral peeling skin syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Atrophoderma vermiculatum (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Cole disease Is a False Hereditary disorder of the integument Inferred relationship Some
Oto-onycho-peroneal syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
A rare, genetic lipodystrophy characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis. Is a True Hereditary disorder of the integument 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 Hereditary disorder of the integument Inferred relationship Some
A rare vascular anomaly or angioma characterized by the presence of small, multifocal bluish-purple venous lesions mainly involving the skin. Is a True Hereditary disorder of the integument Inferred relationship Some
A rare syndromic cerebellar ataxia characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy. Is a True Hereditary disorder of the integument Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by the association of hypocalcified and hypoplastic tooth enamel, distal finger and toenail onycholysis with subungual hyperkeratosis, and functional hypohidrosis. Additional manifestations include seborrheic scalp dermatitis and rough, dry skin. Lacrimal punctum may be occasionally absent. There have been no further descriptions in the literature since 1975. Is a True Hereditary disorder of the integument Inferred relationship Some
Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjunctiva. No hypopigmentation macules are observed and no systemic diseases are associated. Is a False Hereditary disorder of the integument Inferred relationship Some
A rare ectodermal dysplasia syndrome characterized by neonatal teeth, hypo- or oligodontia of the secondary dentition, flexural acanthosis nigricans, and sparse body and scalp hair (the latter being thin and slow-growing). There have been no further descriptions in the literature since 1995. Is a True Hereditary disorder of the integument Inferred relationship Some
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmorphism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability. Is a True Hereditary disorder of the integument Inferred relationship Some
Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. Is a True Hereditary disorder of the integument Inferred relationship Some
An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. Is a True Hereditary disorder of the integument Inferred relationship Some
A rare inherited skin cancer syndrome characterized by the coexistence of features typical of both multiple self-healing squamous epithelioma and generalized eruptive keratoacanthoma, such as multiple small miliary-type lesions, larger self-healing lesions, and nodulo-ulcerative lesions. Lesions do not have a predilection for the mucosal surfaces. Is a True Hereditary disorder of the integument Inferred relationship Some
A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. Is a False Hereditary disorder of the integument Inferred relationship Some
X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmented skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature. Is a True Hereditary disorder of the integument Inferred relationship Some

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