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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

657 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
Hypohidrosis due to genetic abnormality of eccrine gland structure and function (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Basal epidermolysis bullosa simplex (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
fibrofolliculomes multiples familiaux Is a False Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis simplex (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Recessive dystrophic epidermolysis bullosa Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive aplasia cutis congenita of limb (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Trichothiodystrophy (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Transient bullous dermolysis of newborn (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial partial lipodystrophy Kobberling type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma with clinodactyly syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Temple Baraitser syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Bullous dystrophy macular type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial malignant melanoma of skin (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Genetic lipodystrophy (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary skin fragility (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Genetic disorder of skin pigmentation (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Dermatoleukodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary anetoderma (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Van den Bosch syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Non-androgenic hypertrichosis co-occurrent and due to genetic disease (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Acral dystrophic epidermolysis bullosa (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
SCARF syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary benign acanthosis nigricans with insulin resistance Is a False Hereditary disorder of the integument Inferred relationship Some
Incontinentia pigmenti syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Darier disease Is a False Hereditary disorder of the integument Inferred relationship Some
Familial dyskeratotic comedones Is a True Hereditary disorder of the integument Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Wiedemann Steiner syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
White forelock with malformations syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Isolated congenital adermatoglyphia Is a True Hereditary disorder of the integument Inferred relationship Some
Erythema palmare hereditarium Is a True Hereditary disorder of the integument Inferred relationship Some
PTEN hamartoma tumor syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 1 (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Hereditary disorder of the integument Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Familial isolated trichomegaly Is a True Hereditary disorder of the integument Inferred relationship Some
Striate palmoplantar keratoderma (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Focal palmoplantar and gingival keratoderma Is a False Hereditary disorder of the integument Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Punctate palmoplantar keratoderma type 2 (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Trichoodontoonychial dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Generalized basaloid follicular hamartoma syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Upshaw-Schulman syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hypertrichosis cubiti (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Pilodental dysplasia, refractive errors syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Teebi Shaltout syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary progressive mucinous histiocytosis Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia syndactyly syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
XTE syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome classic type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a False Hereditary disorder of the integument Inferred relationship Some
syndrome d'Ehlers-Danlos-hétérotopie nodulaire périventriculaire Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Hypermobile Ehlers-Danlos syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
syndrome d'Ehlers-Danlos type vasculaire-like Is a False Hereditary disorder of the integument Inferred relationship Some
Brittle cornea syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Poikiloderma with neutropenia Is a True Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Hereditary disorder of the integument Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Severe neurodegenerative syndrome with lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Neonatal inflammatory skin and bowel disease (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some

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