363185004: Hereditary disorder of the integument (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument

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
1969431000052119 ärftlig sjukdom i hud sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

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	False	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	False	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
syndrom med sparsam hårväxt, kortvuxenhet och missbildning i huden	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	False	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	False	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 (disorder)	Is a	True	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	False	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

Start Page 2 of 4 Next End

This concept is not in any reference sets

Back to Start

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
1969431000052119	ärftlig sjukdom i hud	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)