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363185004: Hereditary disorder of the integument (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

656 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 Existential restriction modifier
Hereditary disorder of the integument Is a Disorder of integument true Inferred relationship Existential restriction modifier
Hereditary disorder of the integument Finding site Structure of integumentary system true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Sterile multifocal osteomyelitis with periostitis and pustulosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Deafness with onychodystrophy syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Intellectual disability, obesity, prognathism, eye and skin anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial angiolipomatosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Diffuse palmoplantar keratoderma with painful fissures Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Severe dermatitis, multiple allergies, metabolic wasting syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Skin fragility, wooly hair, palmoplantar keratoderma syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Focal palmoplantar keratoderma with joint keratoses Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Seborrhea-like dermatitis with psoriasiform elements Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal recessive nail dysplasia Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Inherited disorder of keratinization Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Parana hard skin syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary gelsolin amyloidosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Inherited cutis laxa Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Ectodermal dysplasia with hair-tooth-nail-sweating defect Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Perilipin 1 related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Deficiency of interleukin 36 receptor antagonist Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Pachyonychia congenita syndrome Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Multiple pterygium syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Arthrogryposis and ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Inherited deformity of nail Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial porphyria cutanea tarda Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Focal dermal hypoplasia Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary benign telangiectasia Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Odontotrichomelic syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary striate leuconychia Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Francois syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Marie Unna syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary palmoplantar keratoderma Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Neonatal purpura fulminans due to homozygous protein C deficiency Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal recessive familial wooly hair Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Neurofibromatosis type 2 Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Neurofibromatosis type 1 Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Distichiasis-lymphedema syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Alopecia, epilepsy, intellectual disability syndrome Moynahan type Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia type I Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia type II Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Focal facial dermal dysplasia type IV Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Multiple fibrofolliculomas Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Diabetes, hypogonadism, deafness, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial granulomatous inflammatory arthritis, dermatitis and uveitis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Heredofamilial systemic amyloidosis affecting skin Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Poikilodermal cutaneous amyloid Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Follicular hamartoma with alopecia and cystic fibrosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial amyloid nephropathy with urticaria AND deafness Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary clubbing Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial lichen amyloidosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary lymphedema and yellow nails Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hyperphosphatemic familial tumoral calcinosis Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Severe achondroplasia, developmental delay, acanthosis nigricans syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Adams-Oliver syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hypodontia and nail dysgenesis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Histiocytosis-lymphadenopathy plus syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Proteus syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial cutaneous collagenoma Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial spinal neurofibromatosis Is a False Hereditary disorder of the integument Inferred relationship Existential restriction modifier
X-linked congenital generalized hypertrichosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Infantile systemic hyalinosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Curry-Hall syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Generalized congenital lipodystrophy with myopathy Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary leiomyomatosis and renal cell carcinoma Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Tumoral calcinosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Chondrodysplasia punctata, X-linked dominant type Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
X-linked keloid scarring, reduced joint mobility, increased optic cup-to-disc ratio syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Mohr syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Orofacial-digital syndrome III Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Orofacial-digital syndrome IV Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Warts, immunodeficiency, lymphedema, anogenital dysplasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Isolated generalized anhidrosis with normal sweat glands Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Juvenile hyaline fibromatosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
AKT serine/threonine kinase 2-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Cell death inducing DFFA like effector C-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Lipase E, hormone sensitive type-related familial partial lipodystrophy Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Laminin subunit alpha 5-related multisystemic syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, xerostomia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial chilblain lupus erythematosus Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial multiple discoid fibroma Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Transmembrane protein 94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Phylloid hypomelanosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Familial progressive hyperpigmentation and hypopigmentation of skin Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Piebald trait with neurologic defects syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary hypermelanosis Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Neuroectodermal melanolysosomal disease Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Deafness, vitiligo, achalasia syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Waardenburg Shah syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier
Carney complex Is a True Hereditary disorder of the integument Inferred relationship Existential restriction modifier

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