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363185004: Hereditary disorder of the integument (disorder)

Status: current, Defined. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
482325014 Hereditary disorder of the integument en Synonym Active Case insensitive SNOMED CT core
754981012 Hereditary disorder of the integument (disorder) en Fully specified name Active Case insensitive SNOMED CT core

658 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 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Rombo syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Joubert syndrome with orofaciodigital defect Is a True Hereditary disorder of the integument Inferred relationship Some
Limb mammary syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Lipodystrophy, intellectual disability, deafness syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
DOORS syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Alymphoid cystic thymic dysgenesis Is a True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, balding, patella luxation, acromicria syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Isolated anterior cervical hypertrichosis Is a True Hereditary disorder of the integument Inferred relationship Some
Johnson neuroectodermal syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Oculoosteocutaneous syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Oculotrichodysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Albinism with deafness syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Book syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Bamforth Lazarus syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Bartsocas Papas syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Congenital cataract with hypertrichosis and intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Congenital lethal erythroderma Is a True Hereditary disorder of the integument Inferred relationship Some
Hennekam Beemer syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with blindness syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Orofaciodigital syndrome type 5 Is a True Hereditary disorder of the integument Inferred relationship Some
Orofaciodigital syndrome type 8 Is a True Hereditary disorder of the integument Inferred relationship Some
Osteoporosis and oculocutaneous hypopigmentation syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ackerman syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Dystrophic epidermolysis bullosa nails only Is a False Hereditary disorder of the integument Inferred relationship Some
LOC syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma, 46,XX sex reversal, predisposition to squamous cell carcinoma syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Palmoplantar keratoderma Nagashima type Is a False Hereditary disorder of the integument Inferred relationship Some
Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Hypohidrosis due to genetic abnormality of eccrine gland structure and function Is a True Hereditary disorder of the integument Inferred relationship Some
Basal epidermolysis bullosa simplex Is a False Hereditary disorder of the integument Inferred relationship Some
Familial multiple fibrofolliculoma Is a False Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis, lymphoedema, telangiectasia, renal defect syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis with juvenile macular degeneration syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis simplex Is a True Hereditary disorder of the integument Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
RIN2 syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Pili torti onychodysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Toriello Lacassie Droste syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypotrichosis and intellectual disability syndrome Lopes type Is a True Hereditary disorder of the integument Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a True Hereditary disorder of the integument Inferred relationship Some
Recessive dystrophic epidermolysis bullosa Is a False Hereditary disorder of the integument Inferred relationship Some
Recessive aplasia cutis congenita of limbs Is a True Hereditary disorder of the integument Inferred relationship Some
Trichothiodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
Transient bullous dermolysis of newborn Is a False Hereditary disorder of the integument Inferred relationship Some
Sensorineural hearing loss, early greying, essential tremor syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Frontonasal dysplasia with alopecia and genital anomaly syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial partial lipodystrophy Kobberling type Is a True Hereditary disorder of the integument Inferred relationship Some
Keratosis palmaris et plantaris with clinodactyly syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Junctional epidermolysis bullosa non-Herlitz type Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary hypotrichosis with recurrent skin vesicles syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Temple Baraitser syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypohidrotic X-linked ectodermal dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency Is a False Hereditary disorder of the integument Inferred relationship Some
Bullous dystrophy macular type Is a True Hereditary disorder of the integument Inferred relationship Some
Familial malignant melanoma of skin Is a True Hereditary disorder of the integument Inferred relationship Some
CAMOS syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Genetic lipodystrophy Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary skin fragility Is a True Hereditary disorder of the integument Inferred relationship Some
Genetic disorder of skin pigmentation Is a False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia and sensorineural deafness syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Osteopenia, intellectual disability, sparse hair syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Dermatoleukodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
Familial anetoderma Is a True Hereditary disorder of the integument Inferred relationship Some
Van den Bosch syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Non-androgenic hypertrichosis co-occurrent and due to genetic disease Is a True Hereditary disorder of the integument Inferred relationship Some
Acral dystrophic epidermolysis bullosa Is a False Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia trichoodontoonychial type Is a True Hereditary disorder of the integument Inferred relationship Some
SCARF syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Hereditary benign acanthosis nigricans with insulin resistance Is a False Hereditary disorder of the integument Inferred relationship Some
Incontinentia pigmenti syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Keratosis follicularis Is a False Hereditary disorder of the integument Inferred relationship Some
Familial dyskeratotic comedones Is a True Hereditary disorder of the integument Inferred relationship Some
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Wiedemann Steiner syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
White forelock with malformations syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Curly hair, acral keratoderma, caries syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Isolated congenital adermatoglyphia Is a True Hereditary disorder of the integument Inferred relationship Some
Erythema palmare hereditarium Is a True Hereditary disorder of the integument Inferred relationship Some
PTEN hamartoma tumour syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 1 Is a False Hereditary disorder of the integument Inferred relationship Some
Oro-facial digital syndrome type 14 Is a True Hereditary disorder of the integument Inferred relationship Some
Woolly hair with palmoplantar keratoderma syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Familial isolated trichomegaly Is a True Hereditary disorder of the integument Inferred relationship Some
Striate palmoplantar keratoderma Is a False Hereditary disorder of the integument Inferred relationship Some
Focal palmoplantar and gingival keratoderma Is a False Hereditary disorder of the integument Inferred relationship Some
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Punctate palmoplantar keratoderma type 2 Is a False Hereditary disorder of the integument Inferred relationship Some
Trichoodontoonychial dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Trichodysplasia xeroderma syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Generalised basaloid follicular hamartoma syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Upshaw-Schulman syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypertrichosis cubiti Is a True Hereditary disorder of the integument Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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