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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

654 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Hereditary disorder of the integument est un(e) (attribut) Hereditary disorder by system true Inferred relationship Some
Hereditary disorder of the integument est un(e) (attribut) troubles tégumentaires true Inferred relationship Some
Hereditary disorder of the integument localisation d'une constatation (attribut) Structure of integumentary system (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with blindness syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome oro-facio-digital type 5 est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 8 (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ackerman syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Dystrophic epidermolysis bullosa nails only (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Laryngo-onycho-cutaneous syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
syndrome de kératodermie palmoplantaire-surdité est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma Nagashima type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hypohidrosis due to genetic abnormality of eccrine gland structure and function (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Basal epidermolysis bullosa simplex (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Familial multiple fibrofolliculoma (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
syndrome d'hypotrichose, lymphœdème, télangiectasie, atteinte rénale est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis simplex (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Pili torti onychodysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Aplasia cutis congenita with epibulbar dermoid syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Recessive dystrophic epidermolysis bullosa (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive aplasia cutis congenita of limb (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Trichothiodystrophy (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Transient bullous dermolysis of newborn (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
lipodystrophie partielle familiale type Köbberling est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma with clinodactyly syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Temple Baraitser syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Bullous dystrophy macular type (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Familial malignant melanoma of skin (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome d'ataxie cérébelleuse, déficience intellectuelle, atrophie optique, anomalies cutanées est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Genetic lipodystrophy (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Hereditary skin fragility (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Genetic disorder of skin pigmentation (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome de dysplasie ectodermique-surdité neurosensorielle est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Dermatoleukodystrophy est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary anetoderma (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Van den Bosch syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Non-androgenic hypertrichosis co-occurrent and due to genetic disease (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
epidermolyse bulleuse dystrophique dominante acrale est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
dysplasie ectodermique tricho-odonto-onychiale est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
SCARF syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
acanthosis nigricans héréditaire bénin avec insulinorésistance est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
incontinentia pigmenti est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
kératose folliculaire de Darier est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Familial dyskeratotic comedones est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Wiedemann Steiner syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome de mèches blanches et anomalies multiples est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
adermatoglyphie congénitale isolée est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Erythema palmare hereditarium est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome tumoral hamartomateux lié à PTEN est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 1 (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 14 est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Wooly hair with palmoplantar keratoderma syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Familial isolated trichomegaly est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Striate palmoplantar keratoderma (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Focal palmoplantar and gingival keratoderma est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Punctate palmoplantar keratoderma type 2 (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Trichoodontoonychial dysplasia est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Trichodysplasia xeroderma syndrome (disorder) est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Generalized basaloid follicular hamartoma syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Upshaw-Schulman syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hypertrichosis cubiti (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Leukoencephalopathy, palmoplantar keratoderma syndrome est un(e) (attribut) False Hereditary disorder of the integument Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
dysplasie pilo-dentaire est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hidrotic ectodermal dysplasia Christianson Fourie type (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Teebi Shaltout syndrome est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder) est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
Hereditary progressive mucinous histiocytosis est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some
syndrome de dysplasie ectodermique-syndactylie est un(e) (attribut) True Hereditary disorder of the integument Inferred relationship Some

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