72651009: Nail structure (body structure)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

120676016 Nail en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

502181016 Human nail structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

502182011 Nail structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

812952010 Nail structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Nail structure	Is a	Skin appendage structure (body structure)	false	Inferred relationship	Some
Nail structure	Is a	Digit structure	false	Inferred relationship	Some
Nail structure	partie de	Entire skin	false	Additional relationship	Some
Nail structure	partie de	Entire limb	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Proximal subungual onychomycosis (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	3
Superficial white onychomycosis (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	3
Onychomycosis of fingernails	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Trichophyton mentagrophytes variant interdigitale (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Trichophyton rubrum (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Oto-onycho-peroneal syndrome	Finding site	False	Nail structure	Inferred relationship	Some	8
Onychomycosis caused by Trichophyton tonsurans variant tonsurans	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Scytalidium dimidiatum	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Epidermophyton floccosum	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Trichophyton mentagrophytes	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Curvularia lunata (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Scytalidium hyalinum (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Acremonium (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Trichophyton schoenleinii (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Trichophyton soudanense	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Onychocola canadensis (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Trichophyton violaceum	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis due to dermatophyte	Finding site	False	Nail structure	Inferred relationship	Some	3
Onychomycosis due to opportunistic infection (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	3
Onychomycosis caused by Pseudeurotium ovale	Finding site	False	Nail structure	Inferred relationship	Some	3
Total dystrophic onychomycosis (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	3
Endonyx onychomycosis (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	3
Onychomycosis (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	3
Onychomycosis caused by Neocucurbitaria unguis-hominis	Finding site	False	Nail structure	Inferred relationship	Some	3
candidose de la peau et des ongles	Finding site	False	Nail structure	Inferred relationship	Some	2
Onychomycosis caused by Neoscytalidium dimidiatum (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	1
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.	Finding site	False	Nail structure	Inferred relationship	Some	3
No abnormality detected on examination of nail (finding)	Finding site	False	Nail structure	Inferred relationship	Some
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.	Finding site	False	Nail structure	Inferred relationship	Some	5
Anonychia with bizarre flexural pigmentation	Finding site	False	Nail structure	Inferred relationship	Some	2
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.	Finding site	False	Nail structure	Inferred relationship	Some	3
A multiple congenital anomaly disorder characterized by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth.	Finding site	False	Nail structure	Inferred relationship	Some	2
A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported.	Finding site	False	Nail structure	Inferred relationship	Some	8
Hidrotic ectodermal dysplasia, Halal type is a form of ectodermal dysplasia syndrome characterized by trichodysplasia, with absent eyebrows and eyelashes, onychodysplasia, mild retrognathia, abnormal dermatoglyphics (excess of whorls on fingertips, radial loop on finger, hypothenar pattern), intellectual disability and normal teeth and sweating. Additional variable manifestations include high implanted or prominent ears, mild hearing loss, supernumerary nipple, café-au-lait spots, keratosis pilaris, and irregular menses. To date, four individuals from 2 generations of a consanguineous family of Portuguese descent have been described in the literature. Males and females were equally affected. Hidrotic ectodermal dysplasia, Halal type is inherited in an autosomal recessive manner.	Finding site	False	Nail structure	Inferred relationship	Some	7
A rare multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.	Finding site	False	Nail structure	Inferred relationship	Some	9
A rare, genetic, primary immunodeficiency due to a defect in adaptive immunity characterized by the triad of congenital athymia (resulting in severe T-cell immunodeficiency), congenital alopecia totalis and nail dystrophy. Patients present neonatal or infantile-onset, severe, recurrent, life-threatening infections and low or absent circulating T cells. Additional features reported include erythroderma, lymphoadenopathy, diarrhea and failure to thrive.	Finding site	False	Nail structure	Inferred relationship	Some	4
Onychoclasis (finding)	Finding site	False	Nail structure	Inferred relationship	Some
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.	Finding site	False	Nail structure	Inferred relationship	Some	4
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome is a fatal malformative disorder that is characterised by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions in the literature since 1988.	Finding site	False	Nail structure	Inferred relationship	Some	11
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.	Finding site	False	Nail structure	Inferred relationship	Some	7
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.	Finding site	False	Nail structure	Inferred relationship	Some	5
Nail fragility (finding)	Finding site	False	Nail structure	Inferred relationship	Some	2
Onycholysis caused by chemical (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	1
Lichen planus co-occurrent with onycholysis (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	5
Congenital onychoatrophy (disorder)	Finding site	False	Nail structure	Inferred relationship	Some	2
Abnormality of nail surface (finding)	Finding site	False	Nail structure	Inferred relationship	Some
Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.	Finding site	False	Nail structure	Inferred relationship	Some	4
Leukonychia totalis is a rare nail anomaly disorder characterized by complete white discoloration of the nails. Patients typically present white, chalky nails as an isolated finding, although other cutaneous or systemic manifestations could also be present.	Finding site	False	Nail structure	Inferred relationship	Some	1
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.	Finding site	False	Nail structure	Inferred relationship	Some	4
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.	Finding site	False	Nail structure	Inferred relationship	Some	4
Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985.	Finding site	False	Nail structure	Inferred relationship	Some	1
Trichoodontoonychial dysplasia is a rare ectodermal dysplasia syndrome characterized by severe generalized hypotrichosis, parietal alopecia, secondary anodontia resulting from enamel hypoplasia, onychodystrophy, bone deficiency in the frontoparietal region and skin manifestations (including nevus pigmentosus, papules, ephelides, palmoplantar keratosis, supernumerary nipples, abnormal dermatoglyphics). There have been no further descriptions in the literature since 1983.	Finding site	False	Nail structure	Inferred relationship	Some	2

Start Previous Page 15 of 15

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
120676016	Nail	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502181016	Human nail structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
502182011	Nail structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
812952010	Nail structure (body structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core