76640006: Congenital webbing (morphologic abnormality)

SNOMED CT Concept\Body structure\Body structure, altered from its original anatomical structure (morphologic abnormality)\Morphologically abnormal structure\Lesion (morphologic abnormality)\Fusion\Fusion that has occurred in a structure that is not normally fused.\Congenital webbing

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital webbing	Is a	kongenit abnorm sammenvoksning	false	Inferred relationship	Some
Congenital webbing	Is a	Fusion that has occurred in a structure that is not normally fused.	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital web of larynx	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Dewebbing procedure	Direct morphology	True	Congenital webbing	Inferred relationship	Some	1
Syndactyly of thumb (disorder)	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Syndactyly of fingers with fusion of bones	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Simple syndactyly of fingers - first web	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Release of syndactyly of toes	Direct morphology	True	Congenital webbing	Inferred relationship	Some	1
Simple syndactyly of fingers - second to fourth web	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Osseous syndactyly of fingers - first web	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Simple syndactyly of toes	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
kongenit pterygium colli, ikke nærmere specificeret	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Simple syndactyly of toes, first web space	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Osseous syndactyly of fingers - second to fourth web	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
kongenit pterygium colli, uspecificeret	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Jackson's membrane	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Syndactyly of fingers	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Simple syndactyly of toes second to fourth web	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Simple syndactyly of fingers	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Syndactyly of toes	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
kongenit subglottisk sammenvoksning i larynx	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Congenital glottic web of larynx	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Symbrachydactyly	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Congenital pyloric membrane	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Symbrachydactyly of toe (disorder)	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
kompleks syndaktyli af tæer	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
kompleks syndaktyli af andre fingre end tommelfinger	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
kompleks syndaktyli af tæer	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
kompleks syndaktyli af andre fingre end tommelfinger	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Symbrachydactyly of toe (disorder)	Associated morphology	False	Congenital webbing	Inferred relationship	Some	1
Release of webbing of neck	Direct morphology	False	Congenital webbing	Inferred relationship	Some	1
Release of webbing of neck	Direct morphology	True	Congenital webbing	Inferred relationship	Some	1
Correction of syndactyly with skin flap	Direct morphology	False	Congenital webbing	Inferred relationship	Some	5
Correction of syndactyly with skin flap and graft	Direct morphology	False	Congenital webbing	Inferred relationship	Some	6
Neck webbing	Associated morphology	False	Congenital webbing	Inferred relationship	Some	3
Congenital pyloric antral membrane	Associated morphology	False	Congenital webbing	Inferred relationship	Some	4
Webbed penis	Associated morphology	False	Congenital webbing	Inferred relationship	Some	2
Symbrachydactyly of toe (disorder)	Associated morphology	False	Congenital webbing	Inferred relationship	Some	3
Congenital glottic web of larynx	Associated morphology	False	Congenital webbing	Inferred relationship	Some	3
Symbrachydactyly	Associated morphology	False	Congenital webbing	Inferred relationship	Some	3
Congenital pyloric membrane	Associated morphology	False	Congenital webbing	Inferred relationship	Some	3
Dewebbing of syndactyly of fingers	Direct morphology	True	Congenital webbing	Inferred relationship	Some	4
Webbed penis	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Popliteal pterygium syndrome	Associated morphology	False	Congenital webbing	Inferred relationship	Some	3
Dewebbing of syndactyly of toes	Direct morphology	True	Congenital webbing	Inferred relationship	Some	3
A rare genetic, multiple congenital anomalies syndrome characterized by cleft lip, with or without cleft palate, pits in the lower lip, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	3
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.	Associated morphology	False	Congenital webbing	Inferred relationship	Some	5
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents.	Associated morphology	False	Congenital webbing	Inferred relationship	Some	4
Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short, webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	3
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	Associated morphology	False	Congenital webbing	Inferred relationship	Some	5
Congenital upper esophageal web	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	2
An extremely rare multiple congenital anomalies/dysmorphic syndrome with characteristics of micrognathia, short webbed neck, hypoplastic nipples and joint contractures (which improve over time) of the knees and elbows. In addition, sloping shoulders, mild to moderate hearing loss, mild speech impairment and facies with hypertelorism, short philtrum and tented upper lip may be associated.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	4
A rare genetic dermis disorder with characteristics of bilateral fairly symmetrical antecubital webbing extending from distal third of humerus to proximal third of forearm, associated with musculoskeletal abnormalities (such as absent long head of triceps, bilateral posterior dislocation of the radial head and hypoplasia of the olecranon processes) and absent skin creases over the terminal interphalangeal joints of fingers. Clinically manifests with moderate to severe elbow extension and supination limitation.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Multiple pterygium syndrome	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Lethal multiple pterygium syndrome	Associated morphology	True	Congenital webbing	Inferred relationship	Some	4
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	3
A rare distal arthrogryposis syndrome with characteristics of multiple pterygia (typically involving the neck, axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature. There is evidence this disease is caused by heterozygous mutation in the MYH3 gene on chromosome 17p13.	Associated morphology	True	Congenital webbing	Inferred relationship	Some	3
Duodenal web	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Incomplete congenital pyloric antral membrane (disorder)	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Complete congenital antral web	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1
Congenital membrane of lacrimal punctum (disorder)	Associated morphology	True	Congenital webbing	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
127264013	Congenital webbing	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127266010	Congenital web	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127267018	Web	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127268011	Webbing	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
127270019	Congenital membrane	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
817382019	Congenital webbing (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4659331000005118	kongenit sammenvoksning	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)