Disorder of integument	Hereditary disorder by system
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Hereditary disorder of the integument (disorder)
	Hereditary disorder of the integument
	hereditaire aandoening van integumentum
	erfelijke ziekte van integumentair systeem

Id	363185004
Status	Defined

Finding site

Structure of integumentary system

ICD-10 complex map reference set

Target
Rule	TRUE
Advice	MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA
Correlation	SNOMED CT source code to target map code correlation not specified

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Absence of fingerprints with congenital milia syndrome

Acanthosis nigricans and insulin resistance with muscle cramp and acral enlargement syndrome

Ackerman syndrome

Adams-Oliver syndrome

ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome

Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

AGel amyloidosis

AKT2-related familial partial lipodystrophy

Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

Alopecia and intellectual disability with hypergonadotropic hypogonadism syndrome

Alopecia, contracture, dwarfism, intellectual disability syndrome

Alopecia, epilepsy, intellectual disability syndrome Moynahan type

Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections

Alopecia, progressive neurological defect, endocrinopathy syndrome

Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome

Amaurosis hypertrichosis syndrome

Amelo-onycho-hypohidrotic syndrome

Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome

Anonychia with microcephaly syndrome

Aplasia cutis congenita with epibulbar dermoid syndrome

Aplasia cutis congenita with intestinal lymphangiectasia syndrome

Aplasia cutis with myopia syndrome

Arthrogryposis and ectodermal dysplasia syndrome

Autosomal dominant familial woolly hair Autosomal dominant familial wooly hair

Autosomal dominant hypohidrotic ectodermal dysplasia syndrome

Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome

Autosomal recessive familial wooly hair Autosomal recessive familial woolly hair3

Autosomal recessive hypohidrotic ectodermal dysplasia syndrome

Autosomal recessive nail dysplasia

Autosomal recessive popliteal pterygium syndrome

Autosomal semi-dominant severe lipodystrophic laminopathy

B-K mole (nevus) syndrome

Bamforth Lazarus syndrome

Blepharocheilodontic syndrome

Brachymorphism with onychodysplasia and dysphalangism syndrome

Brooke-Spiegler syndrome

Bullous dystrophy macular type

Capillary malformation-arteriovenous malformation syndrome

Cerebellar ataxia and ectodermal dysplasia

Cervical hypertrichosis and peripheral neuropathy syndrome

Cholestanol storage disease

Cholestanol storage disease

Chondrodysplasia punctata, X-linked dominant type

CIDEC-related familial partial lipodystrophy

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome

Conductive deafness, ptosis, skeletal anomalies syndrome

Congenital cataract with hypertrichosis and intellectual disability syndrome

Congenital hereditary nail dystrophy

Congenital lethal erythroderma

Contracture with ectodermal dysplasia and orofacial cleft syndrome

Crouzon syndrome with acanthosis nigricans

Curry-Hall syndrome

Cutaneous photosensitivity and lethal colitis syndrome

Deafness with onychodystrophy syndrome2

Deafness, enamel hypoplasia, nail defect syndrome

Deficiency of interleukin 36 receptor antagonist

Dermatoleukodystrophy

Dermatoosteolysis Kirghizian type

Dermo-odonto dysplasia

Distichiasis-lymphedema syndrome

Dyskeratosis congenita3

Ectodermal dysplasia and sensorineural deafness syndrome

Ectodermal dysplasia syndactyly syndrome

Ectodermal dysplasia trichoodontoonychial type

Ectodermal dysplasia with blindness syndrome

Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome

Ectodermal dysplasia with natal teeth Turnpenny type

Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome

Ehlers-Danlos syndrome19

Epidermodysplasia verruciformis

Epidermolysis bullosa3

Erythema palmare hereditarium

Fabry's disease

Facial dysmorphism, immunodeficiency, livedo, short stature syndrome

Familial acantholysis

Familial amyloid nephropathy with urticaria AND deafness

Familial angiolipomatosis

Familial chilblain lupus erythematosus

Familial cold urticaria1

Familial cutaneous collagenoma

Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

Familial dyskeratotic comedones

Familial isolated trichomegaly

Familial lichen amyloidosis

Familial malignant melanoma of skin

Familial multiple discoid fibroma

Familial partial lipodystrophy Dunnigan type

Familial partial lipodystrophy Dunnigan type

Familial partial lipodystrophy Kobberling type

Familial partial lipodystrophy Kobberling type

Familial porphyria cutanea tarda

Farber's lipogranulomatosis

Focal dermal hypoplasia

Focal facial dermal dysplasia type I

Focal facial dermal dysplasia type II

Focal facial dermal dysplasia type IV

Follicular atrophoderma and basal cell epitheliomata

Follicular hamartoma with alopecia and cystic fibrosis syndrome

Francois syndrome

Frontonasal dysplasia with alopecia and genital anomaly syndrome

Generalized basaloid follicular hamartoma syndrome

Generalized congenital lipodystrophy with myopathy

Genetic disorder of skin pigmentation27

Gingival fibromatosis and hypertrichosis syndrome

Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

Glomuvenous malformation

Gorlin syndrome

Granulomatous inflammatory arthritis, dermatitis and uveitis, familial

Hair defect with photosensitivity and intellectual disability syndrome

Hennekam Beemer syndrome

Hereditary acrodermatitis enteropathica

Hereditary acrodermatitis enteropathica

Hereditary anetoderma

Hereditary benign intraepithelial dyskeratosis

Hereditary clubbing

Hereditary hypotrichosis simplex1

Hereditary hypotrichosis with recurrent skin vesicles syndrome

Hereditary keratoacanthoma

Hereditary leiomyomatosis and renal cell carcinoma

Hereditary lipodystrophy

Hereditary lymphedema and yellow nails

Hereditary neurocutaneous angiomata

Hereditary palmoplantar keratoderma24

Hereditary progressive mucinous histiocytosis

Hereditary sclerosing poikiloderma4

Hereditary skin fragility1

Hereditary striate leuconychia

Heredofamilial systemic amyloidosis affecting skin1

Hidrotic ectodermal dysplasia Christianson Fourie type

Hidrotic ectodermal dysplasia Halal type

Hirschsprung disease with nail hypoplasia and dysmorphism

Histiocytosis-lymphadenopathy plus syndrome

Hypertrichosis cubiti

Hypodontia and nail dysgenesis

Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome

Hypohidrosis due to genetic abnormality of eccrine gland structure and function

Hypohidrotic X-linked ectodermal dysplasia

Hypotrichosis and intellectual disability syndrome Lopes type

Hypotrichosis with juvenile macular degeneration syndrome

Hypotrichosis, lymphedema, telangiectasia, renal defect syndrome

Incontinentia pigmenti syndrome

Infantile systemic hyalinosis

Inherited cutis laxa8

Inherited deformity of nail1

Inherited disorder of keratinization23

Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome

Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome

Isolated anterior cervical hypertrichosis

Isolated congenital adermatoglyphia

Isolated generalized anhidrosis with normal sweat glands

Johnson neuroectodermal syndrome

Joubert syndrome with orofaciodigital defect

Juvenile hyaline fibromatosis

Kohlschutter's syndrome

LAMA5-related multisystemic syndrome

Limb mammary syndrome

LIPE-related familial partial lipodystrophy

Lipid proteinosis

Lipid proteinosis

Lipodystrophy, intellectual disability, deafness syndrome

Lymphedema hypoparathyroidism syndrome

Macrostomia, preauricular tag, external ophthalmoplegia syndrome

Male emopamil-binding protein disorder with neurological defect

Mammary digital nail syndrome

Mammary digital nail syndrome

Mandibuloacral dysostosis2

Marie Unna syndrome

Melanoma and neural system tumor syndrome

Menkes kinky-hair syndrome

Menkes kinky-hair syndrome

Microcephaly, congenital cataract, psoriasiform dermatitis syndrome

Microphthalmia with linear skin defect syndrome

Multiple fibrofolliculomas

Multiple lentigines syndrome

Multiple pterygium syndrome3

Multiple self-healing epithelioma of Ferguson-Smith

Nail-patella syndrome

Neonatal inflammatory skin and bowel disease

Neonatal purpura fulminans (homozygous protein C deficiency)

Neurofibromatosis type 18

Neurofibromatosis type 2

Non-androgenic hypertrichosis with genetic disease

Noonan syndrome-like disorder with loose anagen hair

Oculoosteocutaneous syndrome

Oculotrichodysplasia

Odonto-tricho-ungual-digito-palmar syndrome

Odontotrichomelic syndrome

Oliver McFarlane syndrome

Oro-facial digital syndrome type 14

Oro-facial digital syndrome type 5

Oro-facial digital syndrome type 8

Oro-facial digital syndrome type 9

Orofacial-digital syndrome III

Orofacial-digital syndrome IV

Osteopenia, intellectual disability, sparse hair syndrome

Oto-onycho-peroneal syndrome

Pachydermoperiostosis syndrome

Parana hard skin syndrome

Perilipin 1 related familial partial lipodystrophy

Perilipin 1 related familial partial lipodystrophy

Perniola Krajewska Carnevale syndrome

Peutz-Jeghers syndrome1

Pili torti onychodysplasia syndrome

Pili torti-deafness syndrome

Pilodental dysplasia, refractive errors syndrome

Poikiloderma with neutropenia

Poikiloderma, alopecia, retrognathism, cleft palate syndrome

Poikilodermal cutaneous amyloid

PPARG-related familial partial lipodystrophy

Premature aging syndrome20

Primary hypergonadotropic hypogonadism and partial alopecia syndrome

Proteus syndrome1

Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

PTEN hamartoma tumor syndrome4

Pterygium colli with intellectual disability and digital anomaly syndrome

Pyogenic arthritis, pyoderma gangrenosum and acne syndrome

Pyogenic arthritis, pyoderma gangrenosum, acne syndrome

Recessive aplasia cutis congenita of limbs

Rothmund-Thomson syndrome2

Scalp, ear, nipple syndrome

Schinzel-Giedion syndrome

Scholte syndrome

Seborrhea-like dermatitis with psoriasiform elements

Sensorineural hearing loss, early graying, essential tremor syndrome

Severe achondroplasia, developmental delay, acanthosis nigricans syndrome

Severe dermatitis, multiple allergies, metabolic wasting syndrome

Severe neurodegenerative syndrome with lipodystrophy

Severe neurodegenerative syndrome with lipodystrophy

Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome

Short stature with webbed neck and congenital heart disease syndrome

Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome

Short tarsus with absence of lower eyelashes syndrome

Sitosterolemia with xanthomatosis

Split-foot malformation, mesoaxial polydactyly syndrome

Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome

Steatocystoma multiplex1

Sterile multifocal osteomyelitis with periostitis and pustulosis

Stern Lubinsky Durrie syndrome

Taurodontia with absent teeth and sparse hair syndrome

Teebi Shaltout syndrome

Temple Baraitser syndrome

TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome

Torticollis, keloids, cryptorchidism, renal dysplasia syndrome

Trichodysplasia with amelogenesis imperfecta syndrome

Trichoodontoonychial dysplasia

Trichothiodystrophy5

Tuberous sclerosis syndrome4

Tumoral calcinosis2

Ultraviolet sensitive syndrome

Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome

Upshaw-Schulman syndrome

Van den Bosch syndrome

Von Hippel-Lindau syndrome1

Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome

White forelock with malformations syndrome

Wiedemann Steiner syndrome

Woodhouse Sakati syndrome

X-linked congenital generalized hypertrichosis

X-linked intellectual disability with seizure and psoriasis syndrome

X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome

Zlotogora Ogur syndrome