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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
X-linked reticulate pigmentary disorder with systemic manifestation syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary palmoplantar keratoderma Gamborg Nielsen type Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary hypotrichosis simplex of scalp Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Gingival fibromatosis and hypertrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Melanoma and neural system tumor syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex due to plakophilin deficiency Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Epidermolysis bullosa simplex co-occurrent with pyloric atresia Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Piebaldism Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Porokeratosis plantaris palmaris et disseminata Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Mammary digital nail syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 9 Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Generalized peeling skin syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Sparse hair with short stature and skin anomaly syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 34 Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Primary hypergonadotropic hypogonadism and partial alopecia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Pterygium colli with intellectual disability and digital anomaly syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ectodermal dysplasia with acanthosis nigricans syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Late-onset junctional epidermolysis bullosa Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal dominant palmoplantar keratoderma and congenital alopecia Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Absence of fingerprints with congenital milia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
X-linked intellectual disability with seizure and psoriasis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Vici syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Wooly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Trichodysplasia with amelogenesis imperfecta syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Taurodontia with absent teeth and sparse hair syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Haim Munk syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Acro-dermato-ungual-lacrimal-tooth syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ankylosing vertebral hyperostosis with tylosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Anonychia with microcephaly syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Aplasia cutis with myopia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Aplasia cutis congenita with intestinal lymphangiectasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Epidermodysplasia verruciformis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Arterial dissection and lentiginosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Contracture with ectodermal dysplasia and orofacial cleft syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Cooks syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Cutaneous photosensitivity and lethal colitis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Cervical hypertrichosis and peripheral neuropathy syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Alopecia, contracture, dwarfism, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Amaurosis hypertrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hair defect with photosensitivity and intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Short stature with webbed neck and congenital heart disease syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Short tarsus with absence of lower eyelashes syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Lymphedema hypoparathyroidism syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Deaf blind hypopigmentation syndrome Yemenite type Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Deafness, enamel hypoplasia, nail defect syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Dermo-odonto dysplasia Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Dermatoosteolysis Kirghizian type Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Blepharocheilodontic syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hidrotic ectodermal dysplasia Halal type Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hirschsprung disease with nail hypoplasia and dysmorphism Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hypertrichosis and acromegaloid facial appearance syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Microphthalmia with linear skin defect syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Scalp, ear, nipple syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Rombo syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Joubert syndrome with orofaciodigital defect Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Limb mammary syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Lipodystrophy, intellectual disability, deafness syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Isolated anterior cervical hypertrichosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Johnson neuroectodermal syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Oculoosteocutaneous syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Oculotrichodysplasia Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Odonto-tricho-ungual-digito-palmar syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Albinism with deafness syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Book syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Bamforth Lazarus syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal recessive popliteal pterygium syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Congenital lethal erythroderma Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Cutaneous mastocytosis, short stature, hearing loss syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ectodermal dysplasia with blindness syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 5 Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Oro-facial digital syndrome type 8 Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ackerman syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Dystrophic epidermolysis bullosa nails only Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Laryngo-onycho-cutaneous syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Palmoplantar keratoderma with deafness syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Palmoplantar keratoderma Nagashima type Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hypohidrosis due to genetic abnormality of eccrine gland structure and function Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier

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