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82680008: Digit structure (body structure)

Status: current, Not 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
137158015 Digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
505212016 Digit structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
824153016 Digit structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
137158015 Digit en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
137158015 Digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
505212016 Digit structure en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
505212016 Digit structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
824153016 Digit structure (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
824153016 Digit structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2750 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Digit structure Is a Extremity part true Inferred relationship Existential restriction modifier (core metadata concept)
Digit structure partie de Entire limb false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Digit structure Laterality Side true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Acropectoral syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
syndrome de Summitt Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Saethre-Chotzen syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Ichthyosis, oral and digital anomalies syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalosyndactyly type I Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Acrocephalopolysyndactyly type II Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Orofacial-digital syndrome III Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Orofacial-digital syndrome IV Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrofrontofacionasal dysostosis type 2 Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Mirror polydactyly, vertebral segmentation and limb defect syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib-polydactyly syndrome, Majewski type Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Schilbach Rott syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Poland anomaly Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Aphalangy and syndactyly with microcephaly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oral-facial-digital syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Syndactyly type 2 (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome Saldino Noonan type Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Holoprosencephaly and postaxial polydactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalosyndactyly type V (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalosyndactyly Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Craniosynostosis Philadelphia type (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Aphalangy and syndactyly with microcephaly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Goodman-Syndrom Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oliver syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Neurofaciodigitorenal syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hypotrichosis and intellectual disability syndrome Lopes type Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive faciodigitogenital syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Postaxial polydactyly, dental, vertebral anomalies syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Temtamy preaxial brachydactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Heart defect, tongue hamartoma, polysyndactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Heart defect, tongue hamartoma, polysyndactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly, short stature, retinitis pigmentosa syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrofrontofacionasal dysostosis type 2 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hand-foot-genital syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Timothy syndrome type 2 (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Type IV short rib polydactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Type III short rib polydactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Acrocephalopolysyndactyly (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type II Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Acrocephalopolysyndactyly type III (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Goodman-Syndrom Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Curry-Jones syndrome is a form of syndromic craniosynostosis characterised by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Jackson-Weiss syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Congenital clinodactyly Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pfeiffer syndrome type 1 (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pfeiffer syndrome type 2 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Pfeiffer syndrome type 3 (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Structure of lymphatic vessel of digit Is a True Digit structure Inferred relationship Existential restriction modifier (core metadata concept)
Mirror-image polydactyly Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome type 5 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Short rib polydactyly syndrome type 5 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Correction of complicated syndactyly Procedure site - Direct (attribute) True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Correction of syndactyly with skin flap and graft Procedure site - Direct (attribute) True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Temperature of digit Inheres in True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

Concept inactivation indicator attribute value reference set (foundation metadata concept)

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