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403855001: Congenital anomaly of digit (disorder)

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
1771781012 Congenital anomaly of digit (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1782859019 Congenital anomaly of digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1787892018 Developmental anomaly of digits en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006560011 Congenital malformation of digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006587010 Perodactylia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1771781012 Congenital anomaly of digit (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1771781012 Congenital anomaly of digit (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1782859019 Congenital anomaly of digit en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1782859019 Congenital anomaly of digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1787892018 Developmental anomaly of digits en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1787892018 Developmental anomaly of digits en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006560011 Congenital malformation of digit en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3006560011 Congenital malformation of digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006587010 Perodactylia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3006587010 Perodactylia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5265041000241118 anomalie congénitale des doigts fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5265041000241118 anomalie congénitale des doigts fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

629 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of digit Is a Congenital anomaly of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of digit Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of digit Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of digit Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of digit Is a Disorder of digit true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of digit Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of digit Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of digit Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of digit Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of digit Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of digit Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of digit Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of digit Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of digit Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Rudimentary digit Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Macrodactyly of hand Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of finger Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly (disorder) Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Thumb in palm deformity Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
pollice a scatto congenito Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Acrosyndactyly of upper limb Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of forepaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of digit Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of forepaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of digit Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thickening of forepaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital thickening of hindpaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of forepaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Supernumerary forepaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of toe Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Adactyly Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bony fusion of phalanges (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Hitch-hiker thumb Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital curly toes Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Lack of ossification of hindpaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Incomplete ossification of hindpaw phalanx Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital claw toe (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Triphalangeal great toe (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Perodactylia Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital crossed toes Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Undergrowth of the thumb Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Macrodactyly of toe (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of phalanges of foot Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of phalanges of hand (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Symbrachydactyly Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of toe Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation of thumb Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of digit Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly (disorder) Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Adactyly Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Bifid digit Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Deformity of digit of hand due to amniotic band (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital macrodactyly (disorder) Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Brachyphalangia Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly type A1 Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by trigonobrachycephaly, facial dysmorphism (including narrow forehead, upward-slanting palpebral fissures, bulbous nose with slightly bifid tip, macrostomia with thin upper lip, micrognathia), and various acral anomalies, such as broad thumbs, large toes, bulbous fingertips with short nails, joint laxity of the hands and fifth finger clinodactyly. Short stature, hypotonia and severe psychomotor delay are also associated. There have been no further descriptions in the literature since 1991. Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Trigonocephaly with broad thumb syndrome Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Acropectorovertebral dysplasia Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Acrofrontofacionasal dysostosis type 2 Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Multinodular goiter, cystic kidney, polydactyly syndrome Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Pierre Robin sequence faciodigital anomaly syndrome Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder) Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive faciodigitogenital syndrome (disorder) Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Neurofaciodigitorenal syndrome Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Ichthyosis, oral and digital anomalies syndrome (disorder) Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Oculo-palato-digital syndrome Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Oculodento-osseous dysplasia Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Oral-facial-digital syndrome Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Acromelanosis (disorder) Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ankylodactyly Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
symphalangisme Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
Tetramelic monodactyly (disorder) Is a False Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus. Is a True Congenital anomaly of digit Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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