44138005: Keratinization, function (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\Any function or property that is not mainly morphologic or structural, including both measurable and observable features and physiologic actions\Function of the integumentary system\Skin function\Skin growth, function (observable entity)\Keratinization

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Keratinization	Is a	Skin function	false	Inferred relationship	Some
Keratinization	Is a	Skin growth, function (observable entity)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.	Interprets	True	Keratinization	Inferred relationship	Some	4
Rough skin (finding)	Interprets	True	Keratinization	Inferred relationship	Some	2
Rough skin of hands	Interprets	True	Keratinization	Inferred relationship	Some	2
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.	Interprets	False	Keratinization	Inferred relationship	Some	3
A rare diffuse, mutilating, hereditary palmoplantar keratoderma characterized by severe, honeycomb-pattern palmoplantar keratosis and pseudoainhum of the digits leading to autoamputation, associated with mild to moderate congenital sensorineural hearing loss. Additional features include stellate keratosis on the extensor surfaces of the fingers, feet, elbows and knees. Alopecia, onychogryphosis, nail dystrophy or clubbing, spastic paraplegia and myopathy may also be associated.	Interprets	False	Keratinization	Inferred relationship	Some	4
Hypotrichosis with keratosis pilaris and lentiginosis	Interprets	True	Keratinization	Inferred relationship	Some	3
Xeroderma of left eyelid	Interprets	False	Keratinization	Inferred relationship	Some	4
Xeroderma of right eyelid (disorder)	Interprets	False	Keratinization	Inferred relationship	Some	4
Xeroderma of right upper eyelid	Interprets	False	Keratinization	Inferred relationship	Some	3
Xeroderma of left upper eyelid	Interprets	False	Keratinization	Inferred relationship	Some	3
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome is characterized by the association of severe achondroplasia with developmental delay and acanthosis nigricans. It has been described in four unrelated individuals. Structural central nervous system anomalies, seizures and hearing loss were also reported, together with bowing of the clavicle, femur, tibia and fibula in some cases. The syndrome is caused by a Lys650Met substitution in the kinase domain of fibroblast growth factor receptor 3 (encoded by the FGFR3 gene; 4p16.3).	Interprets	True	Keratinization	Inferred relationship	Some	1
Harlequin fetus	Interprets	True	Keratinization	Inferred relationship	Some	4
Autosomal recessive epidermolytic ichthyosis (disorder)	Interprets	True	Keratinization	Inferred relationship	Some	2
Cutis gyrata syndrome of Beare and Stevenson	Interprets	True	Keratinization	Inferred relationship	Some	3
Systematised linear porokeratosis	Interprets	True	Keratinization	Inferred relationship	Some	2
Pityriasis rubra pilaris due to human immunodeficiency virus infection (disorder)	Interprets	True	Keratinization	Inferred relationship	Some	3
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.	Interprets	True	Keratinization	Inferred relationship	Some	6
Erythrokeratodermia-cardiomyopathy syndrome is a rare, genetic erythrokeratoderma disorder characterized by generalized cutaneous erythema with fine white scales and pruritus refractory to treatment, progressive dilated cardiomyopathy, palmoplantar keratoderma, sparse or absent eyebrows and eyelashes, sparse scalp hair, nail dystrophy, and dental enamel anomalies. Variable features include failure to thrive, developmental delay, and development of corneal opacities. Histology shows psoriasiform acanthosis, hypogranulosis, and compact orthohyperkeratosis.	Interprets	True	Keratinization	Inferred relationship	Some	4
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with severe developmental delay, microcephaly, spastic tetraplegia, sensorineural hearing impairment, athetosis, and myoclonus. Marked epileptic discharges with occurrence of tonic spasms have also been reported. Cerebral MRI shows diffuse cortical atrophy. There have been no further descriptions in the literature since 1995.	Interprets	True	Keratinization	Inferred relationship	Some	3
A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.	Interprets	True	Keratinization	Inferred relationship	Some	3
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.	Interprets	True	Keratinization	Inferred relationship	Some	5
Generalized inflammatory peeling skin syndrome	Interprets	True	Keratinization	Inferred relationship	Some	4
Generalized non-inflammatory peeling skin syndrome	Interprets	True	Keratinization	Inferred relationship	Some	3
Ichthyosis hystrix gravior (disorder)	Interprets	True	Keratinization	Inferred relationship	Some	2
Juvenile pityriasis rubra pilaris (disorder)	Interprets	True	Keratinization	Inferred relationship	Some	2
Acquired ichthyosis due to paraneoplastic syndrome (disorder)	Interprets	True	Keratinization	Inferred relationship	Some	2
Adult pityriasis rubra pilaris	Interprets	True	Keratinization	Inferred relationship	Some	2
Terra firma-forme dermatosis (disorder)	Interprets	True	Keratinization	Inferred relationship	Some	2
A rare developmental defect during embryogenesis characterised by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.	Interprets	True	Keratinization	Inferred relationship	Some	3

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Id	Description	Lang	Type	Status	Case?	Module
73613019	Keratinization	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
493794013	Keratinisation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1203192014	Keratinization, function (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2670991015	Keratinization, function	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7075921000241114	kératinisation	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module