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363185004: Hereditary disorder of the integument (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

658 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 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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 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
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome, type 3 Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type 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 Is a False Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Hereditary disorder of the integument Inferred relationship Some
Brittle cornea syndrome 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 Is a False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency Is a False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency 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 Is a True Hereditary disorder of the integument Inferred relationship Some
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Hereditary disorder of the integument Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial angiolipomatosis Is a True Hereditary disorder of the integument Inferred relationship Some
Diffuse palmoplantar keratoderma with painful fissures Is a False Hereditary disorder of the integument Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Hereditary disorder of the integument Inferred relationship Some
Skin fragillity, woolly hair, palmoplantar keratoderma syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses Is a False Hereditary disorder of the integument Inferred relationship Some
Seborrhoea-like dermatitis with psoriasiform elements Is a True Hereditary disorder of the integument Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive nail dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Inherited disorder of keratinisation Is a True Hereditary disorder of the integument Inferred relationship Some
Parana hard skin syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
AGel amyloidosis Is a True Hereditary disorder of the integument Inferred relationship Some
Inherited cutis laxa Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect Is a False Hereditary disorder of the integument Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
Deficiency of interleukin 36 receptor antagonist Is a True Hereditary disorder of the integument Inferred relationship Some
Pachyonychia congenita syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Multiple pterygium syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Inherited deformity of nail Is a True Hereditary disorder of the integument Inferred relationship Some
Familial porphyria cutanea tarda Is a True Hereditary disorder of the integument Inferred relationship Some
Focal dermal hypoplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary benign telangiectasia Is a False Hereditary disorder of the integument Inferred relationship Some
Odontotrichomelic syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary striate leuconychia Is a True Hereditary disorder of the integument Inferred relationship Some
Francois syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Marie Unna syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary palmoplantar keratoderma Is a True Hereditary disorder of the integument Inferred relationship Some
Neonatal purpura fulminans due to homozygous protein C deficiency Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive familial woolly hair Is a True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis type 2 Is a True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis type 1 Is a True Hereditary disorder of the integument Inferred relationship Some
Distichiasis-lymphoedema syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Moynahan syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type I Is a True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type II Is a True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type IV Is a True Hereditary disorder of the integument Inferred relationship Some
Multiple fibrofolliculomas Is a False Hereditary disorder of the integument Inferred relationship Some
Woodhouse Sakati syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Heredofamilial systemic amyloidosis affecting skin Is a True Hereditary disorder of the integument Inferred relationship Some
Poikilodermal cutaneous amyloid Is a True Hereditary disorder of the integument Inferred relationship Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary clubbing Is a True Hereditary disorder of the integument Inferred relationship Some
Familial lichen amyloidosis Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary lymphoedema and yellow nails Is a True Hereditary disorder of the integument Inferred relationship Some
Hyperphosphataemic familial tumoural calcinosis Is a False Hereditary disorder of the integument Inferred relationship Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Adams-Oliver syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypodontia and nail dysgenesis Is a True Hereditary disorder of the integument Inferred relationship Some
Histiocytosis-lymphadenopathy plus syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Proteus syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial cutaneous collagenoma Is a True Hereditary disorder of the integument Inferred relationship Some
Familial spinal neurofibromatosis Is a False Hereditary disorder of the integument Inferred relationship Some
X-linked congenital generalised hypertrichosis Is a True Hereditary disorder of the integument Inferred relationship Some
Atrichia congenita Is a True Hereditary disorder of the integument Inferred relationship Some
Infantile systemic hyalinosis Is a True Hereditary disorder of the integument Inferred relationship Some
Curry-Hall syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Generalised congenital lipodystrophy with myopathy Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary leiomyomatosis and renal cell carcinoma Is a True Hereditary disorder of the integument Inferred relationship Some
Tumoural calcinosis Is a True Hereditary disorder of the integument Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type Is a True Hereditary disorder of the integument Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Mohr syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Orofacial-digital syndrome III Is a True Hereditary disorder of the integument Inferred relationship Some
Orofacial-digital syndrome IV Is a True Hereditary disorder of the integument Inferred relationship Some
Warts, immunodeficiency, lymphoedema, anogenital dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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