69707008: Abnormal keratinization (finding)

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

\Functional finding\Abnormal keratinization

\Integumentary system finding\Abnormal keratinization

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

115798015 Abnormal keratinization en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

501362016 Abnormal keratinisation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

809682011 Abnormal keratinization (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

70911000077112 kératinisation anormale 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
Abnormal keratinization	Is a	Skin finding	false	Inferred relationship	Some
Abnormal keratinization	Interprets	Keratinization	false	Inferred relationship	Some	1
Abnormal keratinization	Finding site	Structure of skin region	false	Inferred relationship	Some
Abnormal keratinization	Finding site	Nail structure	false	Inferred relationship	Some
Abnormal keratinization	Finding site	Hair structure	false	Inferred relationship	Some
Abnormal keratinization	Finding site	Hair structure (body structure)	false	Inferred relationship	Some
Abnormal keratinization	Finding site	Skin structure	false	Inferred relationship	Some
Abnormal keratinization	Is a	Integumentary system finding	true	Inferred relationship	Some
Abnormal keratinization	Finding site	Structure of integumentary system (body structure)	true	Inferred relationship	Some	2
Abnormal keratinization	Has interpretation	Abnormal	false	Inferred relationship	Some	1
Abnormal keratinization	Interprets	Keratinization	true	Inferred relationship	Some	1
Abnormal keratinization	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Abnormal keratinization	Is a	Functional finding	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare genetic skin disorder characterized by absence of scalp and body hair and palmoplantar keratoderma, without other hand complications.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, psychomotor developmental delay, generalized seizures, and psoriasis. Mild craniofacial dysmorphism, such as hypertelorism, broad nasal bridge, anteverted nares, macrostomia, highly arched palate and large ears, is also associated. There have been no further descriptions in the literature since 1988.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) together with the systemic and neurological features of Cockayne syndrome.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare genetic ectodermal dysplasia syndrome characterised by woolly hair (presenting at birth), palmoplantar keratoderma (developing in the first year of life) and dilated cardiomyopathy with predominant left ventricle involvement (developing in childhood) which can lead to life-threatening heart failure in childhood or adolescence.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Haim-Munk syndrome (HMS) is characterized by palmoplantar hyperkeratosis, severe early-onset periodontitis, onychogryposis, pes planus, arachnodactyly and acroosteolysis.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Psoriasis of anogenital region (disorder)	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare autosomal recessive, isolated diffuse palmoplantar keratoderma characterized by transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Virus-associated trichodysplasia spinulosa is a rare infectious skin disease characterized by the development of follicular papules with keratin spicules in various parts of the body, predominantly in the face (e.g. nose, eyebrows, auricles), that is due to polyomavirus infection in immunocompromized patients.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Keratosis palmaris et plantaris-clinodactyly syndrome is characterized by the association of palmoplantar keratosis with clinodactyly of the fifth finger. Less than 20 cases have been described in the literature so far, and the majority of reported patients were of Mexican origin. Transmission is autosomal dominant.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory).	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare arthrogryposis syndrome characterized by the association of multiple congenital joint contractures (of the large joints, fingers and toes) and hyperkeratosis (i.e. thick, scaling and fissured skin), with death occurring in early infancy. There have been no further reports in the literature since 1993.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959.	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Hyperkeratosis of mucous membrane of mouth due to and following traumatic injury (disorder)	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Inverted follicular keratosis (disorder)	Has definitional manifestation	False	Abnormal keratinization	Inferred relationship	Some
Disorder of keratinisation	Is a	True	Abnormal keratinization	Inferred relationship	Some
Rough skin (finding)	Is a	True	Abnormal keratinization	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
115798015	Abnormal keratinization	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
501362016	Abnormal keratinisation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809682011	Abnormal keratinization (finding)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
70911000077112	kératinisation anormale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module