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35964007: Congenital anomaly of nail (disorder)

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
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
197189018 Congenital anomaly of nail en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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 Only initial character 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
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

103 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of nail Is a Congenital anomaly of skin (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Is a Developmental abnormality of nail (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nail Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nail Is a Developmental and/or congenital abnormality of nail false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Is a Congenital anomaly of integument false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Is a Disorder of nail false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Is a Congenital anomaly of digit true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nail Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nail Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of nail Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of nail Finding site Nail structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of nail Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nail Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nail Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of nail Is a Nail finding false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Finding site Nail unit structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Pachydermoperiostosis of nail Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Bifid nail Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital enlarged nails Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital koilonychia Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Anonychia Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Robinson nail dystrophy-deafness syndrome Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Subungual fibroma Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital leukonychia (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital clubnail Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Pili torti-deafness syndrome Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital onychauxis Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of claw Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Specified nail anomalies NOS Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other congenital malformations of nails Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Unspecified congenital anomalies of nail Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Pachyonychia congenita syndrome Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Acrocephalosyndactyly type V (disorder) Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Oto-onycho-peroneal syndrome (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital onychauxis Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital onychodysplasia of index fingers (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with hair-nail defect Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Mammary digital nail syndrome (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Cooks syndrome (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)
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 True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Dystrophic epidermolysis bullosa nails only (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Temple Baraitser syndrome (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Trichoodontoonychial dysplasia Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital onychoatrophy (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Deafness with onychodystrophy syndrome Is a False Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Nail-patella syndrome (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Ectodermal dysplasia with nail defect Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malalignment of great toenail (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malalignment of multiple toenails (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pterygium of nail (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Split-foot malformation, mesoaxial polydactyly syndrome Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
Congenital isolated onychodysplasia (disorder) Is a True Congenital anomaly of nail Inferred relationship Existential restriction modifier (core metadata concept)
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 Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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