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363185004: Hereditary disorder of the integument (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
482325014 Hereditary disorder of the integument en Synonym Active Entire term case insensitive SNOMED CT core module
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

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

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