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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 False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Aphalangy and syndactyly with microcephaly syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Aphalangy and syndactyly with microcephaly syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachydactyly with syndactyly Zhao type (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Cenani Lenz syndrome 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 False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
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 False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly with syndactyly Zhao type (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachymorphism with onychodysplasia and dysphalangism syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Craniosynostosis Philadelphia type (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
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 False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Filippi syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 6
Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Acropectorovertebral dysplasia Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Oliver syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Filippi syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Schilbach Rott syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
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 False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Acrofrontofacionasal dysostosis type 2 Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Temperature of digit Inheres in False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hirschsprung disease with deafness and polydactyly syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 10
Saethre-Chotzen syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Hypotrichosis and intellectual disability syndrome Lopes type Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Pierre Robin sequence faciodigital anomaly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Multinodular goiter, cystic kidney, polydactyly syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
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 False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 8
Polysyndactyly and cardiac malformation syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Polysyndactyly and cardiac malformation syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Autosomal recessive faciodigitogenital syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Neurofaciodigitorenal syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Short rib polydactyly syndrome Saldino Noonan type Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 8
Cortical blindness, intellectual disability, polydactyly syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Ichthyosis, oral and digital anomalies syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Absent tibia, polydactyly, arachnoid cyst syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Absent tibia, polydactyly, arachnoid cyst syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Long thumb brachydactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Polydactyly myopia syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Preaxial polydactyly, colobomata, intellectual disability syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Dandy-Walker malformation with postaxial polydactyly syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 7
Preaxial polydactyly, colobomata, intellectual disability syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Microcephalus, digital anomaly, intellectual disability syndrome Finding site False 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) 4
syndrome de Summitt Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Oculo-palato-digital syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oculo-palato-digital syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Correction of syndactyly with skin flap 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) False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Repair of syndactyly with skin graft (procedure) Procedure site - Direct (attribute) False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Repair of syndactyly with skin graft (procedure) Procedure site - Direct (attribute) False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Syndactyly type 6 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniodigital syndrome and intellectual disability syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and psychomotor delay, Robin sequence (including severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophrys, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Mirror hands and feet co-occurrent with nasal defect Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Polysyndactyly and cardiac malformation syndrome (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oral-facial-digital syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 9 (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 10 Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 5 Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 8 Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly elbow wrist dysplasia (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Oro-facial digital syndrome type 9 (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Intellectual disability, polydactyly, uncombable hair syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Oro-facial digital syndrome type 8 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Oro-facial digital syndrome type 10 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Joubert syndrome with orofaciodigital defect Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Oro-facial digital syndrome type 5 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Mohr syndrome Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 1 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Orofacial-digital syndrome IV Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Orofacial-digital syndrome III Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 12 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects. Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Joubert syndrome with orofaciodigital defect Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 5
Oro-facial digital syndrome type 13 Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Oro-facial digital syndrome type 14 (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 13 Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Brachydactyly elbow wrist dysplasia (disorder) Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 1 Finding site False Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Oro-facial digital syndrome type 14 (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 4
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterised by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (including long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies. Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Brachydactyly type B2 (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Crossed polysyndactyly (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Crossed polysyndactyly (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Robin sequence and oligodactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Nail unit structure (body structure) Is a False Digit structure Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly polydactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Hallux varus, preaxial polysyndactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Hallux varus, preaxial polysyndactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Ectodermal dysplasia syndactyly syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 2
Trigonocephaly with broad thumb syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Harrod syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 1
Mohr syndrome Finding site True Digit structure Inferred relationship Existential restriction modifier (core metadata concept) 3
Acropectoral syndrome 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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