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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

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
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis simplex of scalp (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Gingival fibromatosis and hypertrichosis syndrome (disorder) 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 (disorder) 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 (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Porokeratosis plantaris palmaris et disseminata (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Mammary digital nail syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 9 (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Generalized peeling skin syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) 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 (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Primary hypergonadotropic hypogonadism and partial alopecia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) 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 (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Absence of fingerprints with congenital milia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
X-linked intellectual disability with seizure and psoriasis syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Vici syndrome (disorder) 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
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Taurodontia with absent teeth and sparse hair syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Haim Munk syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis with myopia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis congenita with intestinal lymphangiectasia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) 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 (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cooks syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cutaneous photosensitivity and lethal colitis syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cervical hypertrichosis and peripheral neuropathy syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Amaurosis hypertrichosis syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hair defect with photosensitivity and intellectual disability syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Short stature with webbed neck and congenital heart disease syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Lymphedema hypoparathyroidism syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Deaf blind hypopigmentation syndrome Yemenite type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Deafness, enamel hypoplasia, nail defect syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Dermo-odonto dysplasia (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Dermatoosteolysis Kirghizian type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Blepharocheilodontic syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hidrotic ectodermal dysplasia Halal type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hirschsprung disease with nail hypoplasia and dysmorphism (disorder) 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 (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Microphthalmia with linear skin defect syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Rombo syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Joubert syndrome with orofaciodigital defect (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Limb mammary syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a True Hereditary disorder of the integument Inferred relationship Some
Isolated anterior cervical hypertrichosis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Oculoosteocutaneous syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Oculotrichodysplasia (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Albinism with deafness syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Book syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Bamforth Lazarus syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive popliteal pterygium syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Congenital lethal erythroderma (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 5 (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ackerman syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Dystrophic epidermolysis bullosa nails only (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Laryngo-onycho-cutaneous syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Hypohidrosis due to genetic abnormality of eccrine gland structure and function (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some

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