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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
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
Crouzon syndrome with acanthosis nigricans Is a True Hereditary disorder of the integument Inferred relationship Some
Kohlschutter's syndrome 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 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 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
Hereditary sclerosing poikiloderma 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 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
Familial partial lipodystrophy Dunnigan type Is a True Hereditary disorder of the integument Inferred relationship Some
Naxos disease Is a False Hereditary disorder of the integument Inferred relationship Some
Glomuvenous malformation Is a True Hereditary disorder of the integument Inferred relationship Some
Cerebellar ataxia and ectodermal dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Amelo-onycho-hypohidrotic syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial progressive hyperpigmentation Is a False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with natal teeth Turnpenny type Is a True Hereditary disorder of the integument Inferred relationship Some
Zlotogora Ogur syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Oculocerebral hypopigmentation syndrome of Preus type Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia and intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary keratoacanthoma Is a True Hereditary disorder of the integument Inferred relationship Some
Punctate palmoplantar keratoderma type 1 Is a False Hereditary disorder of the integument Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis simplex of scalp Is a False Hereditary disorder of the integument Inferred relationship Some
Gingival fibromatosis and hypertrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Melanoma and neural system tumour syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex due to plakophilin deficiency Is a False Hereditary disorder of the integument Inferred relationship Some
Epidermolysis bullosa simplex with pyloric atresia Is a False Hereditary disorder of the integument Inferred relationship Some
Piebaldism Is a True Hereditary disorder of the integument Inferred relationship Some
Porokeratosis plantaris palmaris et disseminata Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type Is a False Hereditary disorder of the integument Inferred relationship Some
Mammary digital nail syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Orofaciodigital syndrome type 9 Is a True Hereditary disorder of the integument Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Generalised peeling skin syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Sparse hair with short stature and skin anomaly syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Spinocerebellar ataxia type 34 Is a False Hereditary disorder of the integument Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Pterygium colli with intellectual disability and digital anomaly syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Lelis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Late-onset junctional epidermolysis bullosa Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia Is a False Hereditary disorder of the integument Inferred relationship Some
Absence of fingerprints with congenital milia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Vici syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Tricho-retino-dento-digital syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Haim Munk syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Anonychia with microcephaly syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis with myopia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
CHIME syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Epidermodysplasia verruciformis Is a True Hereditary disorder of the integument Inferred relationship Some
Arterial dissection and lentiginosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Cooks syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
EEM syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Amaurosis hypertrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Dahlberg Borer Newcomer syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type Is a True Hereditary disorder of the integument Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Dermo-odonto dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Dermatoosteolysis Kirghizian type Is a True Hereditary disorder of the integument Inferred relationship Some
Blepharocheilodontic syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type Is a True Hereditary disorder of the integument Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Hereditary disorder of the integument Inferred relationship Some
Hypertrichosis and acromegaloid facial appearance syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
GAPO syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Microphthalmia with linear skin defect syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Scalp, ear, nipple syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Rombo 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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