403855001: Congenital anomaly of digit (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of digit (disorder)	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Congenital anomaly of digit (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of digit (disorder)	Finding site	Limb structure	false	Inferred relationship	Some	1
Congenital anomaly of digit (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of digit (disorder)	Is a	Disorder of digit	true	Inferred relationship	Some
Congenital anomaly of digit (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	1
Congenital anomaly of digit (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital anomaly of digit (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Congenital anomaly of digit (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of digit (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital anomaly of digit (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	2
Congenital anomaly of digit (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of digit (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of digit (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Rudimentary digit (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Macrodactyly of hand	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital anomaly of finger (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital anomaly of nail	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Polydactyly	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Brachydactyly	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Thumb in palm deformity	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
pollice a scatto congenito	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Acrosyndactyly of upper limb	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Ectrodactyly	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital absence of forepaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital abnormal shape of digit	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Lack of ossification of forepaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital malposition of digit	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital thickening of forepaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital thickening of hindpaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Incomplete ossification of forepaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Supernumerary forepaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital anomaly of toe	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Adactyly	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital bony fusion of phalanges (disorder)	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Hitch-hiker thumb	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital curly toes	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Lack of ossification of hindpaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Incomplete ossification of hindpaw phalanx	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital claw toe	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Triphalangeal great toe	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Perodactylia	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital crossed toes	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Undergrowth of the thumb	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Macrodactyly of toe (disorder)	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Longitudinal deficiency of phalanges of foot	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Longitudinal deficiency of phalanges of hand	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Symbrachydactyly	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital anomaly of toe	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital malformation of thumb (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital abnormal shape of digit	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Arachnodactyly	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Syndactyly (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Adactyly	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Bifid digit	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Deformity of digit of hand due to amniotic band (disorder)	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital macrodactyly (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Brachyphalangia	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association.	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Familial digital arthropathy-brachydactyly is characterized 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 (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
A rare skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
A rare developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip) and, relative to other family members, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Multinodular goiter - cystic kidney - polydactyly syndrome is a very rare syndrome characterized by the association of multinodular goiter, cystic renal disease and digital anomalies.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterized by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in two chromosome regions, one localized to chromosome 1 and the other to chromosome 14.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Ichthyosis-oral and digital anomalies syndrome is characterized by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two siblings born to first cousin parents. Transmission appears to be autosomal recessive.	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Microcephalus, digital anomaly, intellectual disability syndrome	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Oculo-palato-digital syndrome	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Oculodento-osseous dysplasia	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Oral-facial-digital syndrome	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Acromelanosis (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital ankylodactyly	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Symphalangism	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.	Is a	False	Congenital anomaly of digit (disorder)	Inferred relationship	Some
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 (disorder)	Inferred relationship	Some
Congenital abnormal broad shape of phalanx (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some
Congenital hypoplasia of phalanx of hand (disorder)	Is a	True	Congenital anomaly of digit (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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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
5265041000241118	anomalie congénitale des doigts	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module