35964007: Congenital anomaly of nail (disorder)

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

\Skin AND/OR mucosa finding (finding)\Skin finding\...

\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail

\Finding of limb structure\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Finding of limb structure\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail

\General finding of soft tissue\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail

\Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail
\Integumentary system finding\Skin finding\Nail finding\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail

\Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail
\Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail
\Disease\Disorder of limb (disorder)\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of nail
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail
\Disease\Disorder of soft tissue\Disorder of soft tissue of limb\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of nail (disorder)\Developmental abnormality of nail\Congenital anomaly of nail
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of nail
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of nail
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of nail
\Disease\Developmental disorder\Developmental abnormality of nail\Congenital anomaly of nail

Status: current, 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
Congenital anomaly of nail	Is a	Congenital anomaly of skin	true	Inferred relationship	Some
Congenital anomaly of nail	Is a	Developmental abnormality of nail	true	Inferred relationship	Some
Congenital anomaly of nail	Finding site	Nail structure	false	Inferred relationship	Some	1
Congenital anomaly of nail	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of nail	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of nail	Is a	Developmental and/or congenital abnormality of nail	false	Inferred relationship	Some
Congenital anomaly of nail	Finding site	Skin structure	false	Inferred relationship	Some
Congenital anomaly of nail	Is a	Congenital anomaly of integument	false	Inferred relationship	Some
Congenital anomaly of nail	Is a	Disorder of nail (disorder)	false	Inferred relationship	Some
Congenital anomaly of nail	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Congenital anomaly of nail	Is a	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Congenital anomaly of nail	Finding site	Nail structure	false	Inferred relationship	Some	1
Congenital anomaly of nail	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of nail	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of nail	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of nail	Finding site	Nail structure	false	Inferred relationship	Some	2
Congenital anomaly of nail	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of nail	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of nail	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital anomaly of nail	Is a	Nail finding	false	Inferred relationship	Some
Congenital anomaly of nail	Finding site	Nail unit is a complex structure which consists of nail plate, nail bed, nail root and skin around the nail plate.	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pachydermoperiostosis of nail	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Bifid nail	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital enlarged nails	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital koilonychia	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Anonychia (disorder)	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Robinson nail dystrophy-deafness syndrome	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Subungual fibroma	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Congenital leukonychia	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital clubnail	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Pili torti-deafness syndrome	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Congenital onychauxis	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Congenital anomaly of claw	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Specified nail anomalies NOS	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
[X]Other congenital malformations of nails	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Unspecified congenital anomalies of nail	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital onychauxis	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Congenital onychodysplasia of index fingers (disorder)	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Is a	False	Congenital anomaly of nail	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.	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	True	Congenital anomaly of nail	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.	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	True	Congenital anomaly of nail	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.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
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.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Congenital onychoatrophy (disorder)	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
A rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (including dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, brachydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies.	Is a	False	Congenital anomaly of nail	Inferred relationship	Some
A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Ectodermal dysplasia with nail defect	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital malalignment of great toenail (disorder)	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital malalignment of multiple toenails (disorder)	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital pterygium of nail (disorder)	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital isolated onychodysplasia	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital hypoplasia of nail unit (disorder)	Is a	True	Congenital anomaly of nail	Inferred relationship	Some
Congenital dysplasia of nail unit (disorder)	Is a	True	Congenital anomaly of nail	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
197189018	Congenital anomaly of nail	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486328014	Congenital malformation of nails	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
486329018	Congenital deformity of nail	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
767662010	Congenital anomaly of nail (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4575501013	Congenital abnormality of nail	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1006631000241117	malformation congénitale de l'ongle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1006651000241113	anomalie congénitale de l'ongle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module