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595000: Structure of palpebral fissure (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
2065013 Palpebral fissure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
498454013 Structure of palpebral fissure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
798348017 Structure of palpebral fissure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2647192017 PF - Palpebral fissure en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core


3 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Structure of palpebral fissure (body structure) Is a Fissure (external anatomical feature) false Inferred relationship Some
Structure of palpebral fissure (body structure) Is a Anatomical orifice true Inferred relationship Some
Structure of palpebral fissure (body structure) Is a Eyelid structure false Inferred relationship Some
Structure of palpebral fissure (body structure) partie de Entire eyelid false Additional relationship Some
Structure of palpebral fissure (body structure) Laterality Side (qualifier value) true Inferred relationship Some
Structure of palpebral fissure (body structure) Is a Eyelid part true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Entire palpebral fissure Is a True Structure of palpebral fissure (body structure) Inferred relationship Some
Lateral tarsorrhaphy Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
Medial tarsorrhaphy Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Tissue glue protective tarsorrhaphy Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Frost suture to eyelids Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some
Height of palpebral fissure Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some
Palpebral fissure finding Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some
Upward slant of palpebral fissure Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Downward slant of palpebral fissure Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Short palpebral fissure Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Telecanthus Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Finding of measures of palpebral fissure Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Narrowing of palpebral fissure Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of canthorrhaphy with transposition of tarsal plate Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 3
Enlargement of palpebral fissure Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Blepharorrhaphy Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some
Construction of median tarsorrhaphy with transposition of tarsal plate Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of canthorrhaphy Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
Repair of blepharophimosis Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of median tarsorrhaphy Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some
Blepharophimosis syndrome Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
Coloboma of eyelid Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Revision of tarsorrhaphy Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
Tarsorrhaphy NEC Procedure site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Narrowing of palpebral fissure Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Palpebral fissure finding (finding) Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 3
Senile blepharophimosis Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Spastic blepharophimosis Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Cicatricial blepharophimosis Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Acquired blepharophimosis Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Other blepharophimosis Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Lateral tarsorrhaphy Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Medial tarsorrhaphy Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Tissue glue protective tarsorrhaphy Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 2
Tissue glue protective tarsorrhaphy Procedure site - Indirect (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Narrowing of palpebral fissure Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of canthorrhaphy with transposition of tarsal plate Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 3
Enlargement of palpebral fissure Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Blepharorrhaphy Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of median tarsorrhaphy with transposition of tarsal plate Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 3
Construction of canthorrhaphy Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 2
Repair of blepharophimosis Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of median tarsorrhaphy Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Revision of tarsorrhaphy Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Tarsorrhaphy NEC Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of median tarsorrhaphy Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Medial tarsorrhaphy Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Other blepharophimosis Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Tissue glue protective tarsorrhaphy Procedure site - Indirect (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Tissue glue protective tarsorrhaphy Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 2
Narrowing of palpebral fissure Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Blepharorrhaphy Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Acquired scleral show due to eyelid deformity (finding) Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 2
Senile blepharophimosis Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Cicatricial blepharophimosis Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Scleral show (finding) Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Spastic blepharophimosis Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Narrowing of palpebral fissure Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
Acquired blepharophimosis Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Blepharophimosis syndrome Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
Tarsorrhaphy NEC Procedure site - Direct (attribute) False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Repair of blepharophimosis Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Lateral tarsorrhaphy Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Enlargement of palpebral fissure Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Construction of median tarsorrhaphy with transposition of tarsal plate Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 3
Congenital scleral show (finding) Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 2
Ohdo syndrome, Maat-Kievit-Brunner type Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 5
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 5
Congenital blepharophimosis of upper eyelid Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 3
Congenital blepharophimosis of lower eyelid Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 4
Congenital blepharophimosis of lower eyelid Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
Blepharophimosis syndrome Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
A decrease in size of opening of the eye, not due to eyelid fusion, but rather lateral displacement of the inner canthi Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Ohdo syndrome, Maat-Kievit-Brunner type Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 3
Congenital blepharophimosis of upper eyelid Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 1
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 3
Blepharophimosis syndrome Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 4
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 2
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 3
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 4
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 6
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Finding site False Structure of palpebral fissure (body structure) Inferred relationship Some 6
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 4
A very rare dysmorphic disorder characterized by hypoplasia and coloboma of the alar cartilages and telecanthus described in 2 sisters. No new cases with similar features have been reported since 1976. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 2
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 2
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Telecanthus-hypertelorism-strabismus-pes cavus syndrome is characterized by telecanthus, hypertelorism, strabismus, pes cavus and other variable anomalies. It has been described in a father and his son. The son also had hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of the fingers, and radiographic findings including flared metaphyses of the long bones and osteopenia. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Reopening of blepharorrhaphy Procedure site - Direct (attribute) True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Blepharophimosis, intellectual disability syndrome (disorder) Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
Structure of right palpebral fissure (body structure) Is a True Structure of palpebral fissure (body structure) Inferred relationship Some
Structure of left palpebral fissure (body structure) Is a True Structure of palpebral fissure (body structure) Inferred relationship Some
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2). Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1
A rare genetic syndromic intellectual disability disorder characterized by global developmental delay, often with severe hypotonia and limited mobility, intellectual disability (mild to severe) with absent or significantly impaired speech and behavioral problems. Craniofacial features include blepharophimosis, epicanthal folds, sparse eyebrows and eyelashes, broad nasal bridge, short nose with downturned tip, open mouth with thin upper vermillion, and abnormal ears. Finding site True Structure of palpebral fissure (body structure) Inferred relationship Some 1

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

US English

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