363185004: Hereditary disorder of the integument (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument

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

5229841000241116 affection héréditaire du tégument fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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
A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors.	Is a	False	Hereditary disorder of the integument	Inferred relationship	Some
A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anteverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There has been no further description in the literature since 1984.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Inherited cutaneous hyperpigmentation	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Neurofibromatosis type 6 (NF6), also referred as café-au-lait spots syndrome, is a cutaneous disorder characterized by the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Hereditary distal onycholysis	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Congenital isolated onychodysplasia	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. The kidney tumors range from benign oncocytomas to malignant renal cell carcinomas including chromophobe, clear cell or papillary subtypes. Fibrofolliculomas are characterized by a circumscribed proliferation of collagen and fibroblasts surrounding distorted hair follicles from which basaloid cells protrude into the surrounding fibromucinous stroma. Other characteristic skin anomalies are trichodiscomas and acrochordons. Dermatological manifestations usually develop in the third and fourth decades of life and persist indefinitely. The syndrome is transmitted in an autosomal dominant fashion.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare hereditary sensory and autonomic neuropathy characterized by congenital insensitivity to pain, general hypesthesia, diminished temperature sensitivity, and hyperhidrosis. Motor function is preserved. Skin biopsy reveals lack of cutaneous innervation except for sensory and autonomic innervation of blood vessels and sweat glands.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
An association reported in a single kindred characterized by the variable presence of the following features: anetodermia (macular atrophy of the skin), multiple exostoses, and brachydactyly type E. There have been no further descriptions in the literature since 1985.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare form of neurofibromatosis characterised by the development of multiple schwannomas (nerve sheath tumours), without involvement of the vestibular nerves, and often associated with chronic pain. Dysaesthesia and paraesthesia may also be present. Common localisations include the spine, peripheral nerves, and the cranium.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare genetic autoinflammatory syndrome with skin involvement characterised by cold-induced urticarial rash without angioedema starting in infancy and systemic inflammation due to autosomal dominant mutations in the coagulation factor 12 (F-12) gene. In addition to cold-induced, non-pruritic urticarial rash, patients present with headache, mild to severe arthralgia, fatigue, subfebrile evening temperature, chills, and malaise. Systemic symptoms worsen during the cold season and over the years.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
A rare hyper-IgE syndrome characterised by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteraemia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhoea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition.	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBKB gain of function mutation (disorder)	Is a	True	Hereditary disorder of the integument	Inferred relationship	Some

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