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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

657 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 (body structure) true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Sterile multifocal osteomyelitis with periostitis and pustulosis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Deafness with onychodystrophy syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial angiolipomatosis Is a True Hereditary disorder of the integument Inferred relationship Some
Diffuse palmoplantar keratoderma with painful fissures Is a False Hereditary disorder of the integument Inferred relationship Some
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Classical-like Ehlers-Danlos syndrome type 1 Is a False Hereditary disorder of the integument Inferred relationship Some
Skin fragility, wooly hair, palmoplantar keratoderma syndrome (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some
Seborrhea-like dermatitis with psoriasiform elements (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive nail dysplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Inherited disorder of keratinisation Is a True Hereditary disorder of the integument Inferred relationship Some
Parana hard skin syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
AGel amyloidosis Is a True Hereditary disorder of the integument Inferred relationship Some
Inherited cutis laxa (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect Is a False Hereditary disorder of the integument Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Deficiency of interleukin 36 receptor antagonist Is a True Hereditary disorder of the integument Inferred relationship Some
Pachyonychia congenita syndrome Is a False Hereditary disorder of the integument Inferred relationship Some
Multiple pterygium syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Arthrogryposis and ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Inherited deformity of nail (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial porphyria cutanea tarda Is a True Hereditary disorder of the integument Inferred relationship Some
Focal dermal hypoplasia Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary benign telangiectasia Is a False Hereditary disorder of the integument Inferred relationship Some
Odontotrichomelic syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary striate leuconychia (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Francois syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Marie Unna syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary palmoplantar keratoderma Is a True Hereditary disorder of the integument Inferred relationship Some
Neonatal purpura fulminans due to homozygous protein C deficiency (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive familial woolly hair Is a True Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis type 2 Is a False Hereditary disorder of the integument Inferred relationship Some
Neurofibromatosis type 1 Is a True Hereditary disorder of the integument Inferred relationship Some
Distichiasis-lymphedema syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type I Is a True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type II Is a True Hereditary disorder of the integument Inferred relationship Some
Focal facial dermal dysplasia type IV (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Multiple fibrofolliculomas Is a False Hereditary disorder of the integument Inferred relationship Some
Woodhouse Sakati syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial granulomatous inflammatory arthritis, dermatitis and uveitis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Heredofamilial systemic amyloidosis affecting skin (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Poikilodermal cutaneous amyloid Is a True Hereditary disorder of the integument Inferred relationship Some
Follicular hamartoma with alopecia and cystic fibrosis syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary clubbing Is a True Hereditary disorder of the integument Inferred relationship Some
Familial lichen amyloidosis Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary lymphedema and yellow nails (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hyperphosphataemic familial tumoural calcinosis Is a False Hereditary disorder of the integument Inferred relationship Some
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Adams-Oliver syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypodontia and nail dysgenesis Is a True Hereditary disorder of the integument Inferred relationship Some
Histiocytosis-lymphadenopathy plus syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Proteus syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial cutaneous collagenoma Is a True Hereditary disorder of the integument Inferred relationship Some
Familial spinal neurofibromatosis Is a False Hereditary disorder of the integument Inferred relationship Some
X-linked congenital generalized hypertrichosis Is a True Hereditary disorder of the integument Inferred relationship Some
Infantile systemic hyalinosis Is a True Hereditary disorder of the integument Inferred relationship Some
Curry-Hall syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Generalized congenital lipodystrophy with myopathy (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary leiomyomatosis and renal cell carcinoma (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Tumoral calcinosis Is a False Hereditary disorder of the integument Inferred relationship Some
Chondrodysplasia punctata, X-linked dominant type (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Mohr syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Orofacial-digital syndrome III Is a True Hereditary disorder of the integument Inferred relationship Some
Orofacial-digital syndrome IV Is a True Hereditary disorder of the integument Inferred relationship Some
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Isolated generalized anhidrosis with normal sweat glands Is a True Hereditary disorder of the integument Inferred relationship Some
Juvenile hyaline fibromatosis Is a True Hereditary disorder of the integument Inferred relationship Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
CIDEC-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
LIPE-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Some
LAMA5-related multisystemic syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial chilblain lupus erythematosus (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Familial multiple discoid fibroma Is a True Hereditary disorder of the integument Inferred relationship Some
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Phylloid hypomelanosis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Familial progressive hyper and hypopigmentation Is a True Hereditary disorder of the integument Inferred relationship Some
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Piebald trait with neurologic defects syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary hypermelanosis (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Neuroectodermal melanolysosomal disease (disorder) Is a True Hereditary disorder of the integument Inferred relationship Some
Deafness, vitiligo, achalasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Waardenburg Shah syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Some
Carney complex (disorder) Is a False Hereditary disorder of the integument Inferred relationship Some

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