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45056002: Abnormal shortening (morphologic abnormality)

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
75143016 Abnormal shortening en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
75144010 Abnormal shortened structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
782253017 Abnormal shortening (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

8 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal shortening Is a Deformity true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Abnormally short growth (morphologic abnormality) Is a True Abnormal shortening Inferred relationship Some
perte secondaire de la longueur de l'arcade dentaire Associated morphology False Abnormal shortening Inferred relationship Some 2
perte en longueur de l'arcade dentaire causée par l'absence congénitale de dents Associated morphology False Abnormal shortening Inferred relationship Some 4
perte en longueur de l'arcade dentaire à la suite de la perte de dents primaires Associated morphology False Abnormal shortening Inferred relationship Some 2
perte en longueur de l'arcade dentaire à la suite de la perte de dents permanentes Associated morphology False Abnormal shortening Inferred relationship Some 3
perte en longueur de l'arcade dentaire à la suite de caries dentaires Associated morphology False Abnormal shortening Inferred relationship Some 3
tronc court Associated morphology False Abnormal shortening Inferred relationship Some 1
Common atrioventricular valve chordae too short Associated morphology True Abnormal shortening Inferred relationship Some 1
Limb reduction-ichthyosis syndrome Associated morphology False Abnormal shortening Inferred relationship Some 1
Longitudinal deficiency of foot Associated morphology False Abnormal shortening Inferred relationship Some 3
membre atrophié Associated morphology False Abnormal shortening Inferred relationship Some 3
Roberts-SC phocomelia syndrome Associated morphology False Abnormal shortening Inferred relationship Some 4
Phocomelia Associated morphology False Abnormal shortening Inferred relationship Some 3
jambe rudimentaire Associated morphology False Abnormal shortening Inferred relationship Some 1
Transverse deficiency lower limb - knee level Associated morphology False Abnormal shortening Inferred relationship Some 2
microsomie partielle Associated morphology False Abnormal shortening Inferred relationship Some 1
Complete phocomelia of lower limb Associated morphology True Abnormal shortening Inferred relationship Some 1
Congenital amputation of upper limb Associated morphology False Abnormal shortening Inferred relationship Some 1
Longitudinal deficiency of limb Associated morphology True Abnormal shortening Inferred relationship Some 1
Reduction deformity of lower limb Associated morphology True Abnormal shortening Inferred relationship Some 1
hémimélie d'un membre supérieur Associated morphology False Abnormal shortening Inferred relationship Some 5
Ectromelia Associated morphology False Abnormal shortening Inferred relationship Some 2
bras rudimentaire Associated morphology False Abnormal shortening Inferred relationship Some 3
Reduction deformity of upper limb Associated morphology False Abnormal shortening Inferred relationship Some 3
Micromelia Associated morphology False Abnormal shortening Inferred relationship Some 3
hémimélie d'un membre inférieur Associated morphology False Abnormal shortening Inferred relationship Some 2
Phocomelia of lower limb Associated morphology False Abnormal shortening Inferred relationship Some 1
Ectromelia of upper limb Associated morphology False Abnormal shortening Inferred relationship Some 5
Reduction deformity of upper limb Associated morphology True Abnormal shortening Inferred relationship Some 1
Limb reduction-ichthyosis syndrome Associated morphology True Abnormal shortening Inferred relationship Some 2
Longitudinal deficiency of foot Associated morphology False Abnormal shortening Inferred relationship Some 2
bras rudimentaire Associated morphology False Abnormal shortening Inferred relationship Some 1
membre atrophié Associated morphology False Abnormal shortening Inferred relationship Some 2
microsomie partielle Associated morphology False Abnormal shortening Inferred relationship Some 2
Ectromelia of lower limb Associated morphology True Abnormal shortening Inferred relationship Some 2
Ectromelia of lower limb Associated morphology False Abnormal shortening Inferred relationship Some 3
Micromelia Associated morphology False Abnormal shortening Inferred relationship Some 2
Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Abnormal shortening Inferred relationship Some 5
Ectromelia of upper limb Associated morphology True Abnormal shortening Inferred relationship Some 1
Ectromelia Associated morphology True Abnormal shortening Inferred relationship Some 1
Complete phocomelia of lower limb Associated morphology False Abnormal shortening Inferred relationship Some 2
hémimélie d'un membre supérieur Associated morphology False Abnormal shortening Inferred relationship Some 1
Longitudinal deficiency of limb Associated morphology False Abnormal shortening Inferred relationship Some 2
Reduction deformity of lower limb Associated morphology False Abnormal shortening Inferred relationship Some 2
jambe rudimentaire Associated morphology False Abnormal shortening Inferred relationship Some 2
Phocomelia of lower limb Associated morphology False Abnormal shortening Inferred relationship Some 2
Longitudinal deficiency of part of limb (disorder) Associated morphology True Abnormal shortening Inferred relationship Some 1
Congenital amputation of upper limb Associated morphology False Abnormal shortening Inferred relationship Some 4
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Associated morphology False Abnormal shortening Inferred relationship Some 5
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Associated morphology False Abnormal shortening Inferred relationship Some 4
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Associated morphology False Abnormal shortening Inferred relationship Some 3
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Associated morphology False Abnormal shortening Inferred relationship Some 7
Longitudinal deficiency of upper and lower limbs Associated morphology True Abnormal shortening Inferred relationship Some 2
Longitudinal deficiency of upper and lower limbs Associated morphology False Abnormal shortening Inferred relationship Some 3
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983. Associated morphology True Abnormal shortening Inferred relationship Some 1
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present. Associated morphology True Abnormal shortening Inferred relationship Some 3
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome. Associated morphology True Abnormal shortening Inferred relationship Some 1
hémimélie d'un membre inférieur Associated morphology False Abnormal shortening Inferred relationship Some 1
A rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Associated morphology True Abnormal shortening Inferred relationship Some 1
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Associated morphology True Abnormal shortening Inferred relationship Some 1
Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Abnormal shortening Inferred relationship Some 1
Short cord Associated morphology False Abnormal shortening Inferred relationship Some 1
Had short umbilical cord Associated morphology False Abnormal shortening Inferred relationship Some 1
Short cord - delivered Associated morphology False Abnormal shortening Inferred relationship Some 1
Short cord with antenatal problem Associated morphology False Abnormal shortening Inferred relationship Some 1
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated. Associated morphology True Abnormal shortening Inferred relationship Some 1
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996. Associated morphology True Abnormal shortening Inferred relationship Some 2
Short tendon Associated morphology True Abnormal shortening Inferred relationship Some 1
Short Achilles tendon Associated morphology True Abnormal shortening Inferred relationship Some 1
Acquired bilateral short Achilles tendon (disorder) Associated morphology False Abnormal shortening Inferred relationship Some 3
Contracture Is a True Abnormal shortening Inferred relationship Some
Acquired short Achilles tendon Associated morphology False Abnormal shortening Inferred relationship Some 2
hémimélie Associated morphology False Abnormal shortening Inferred relationship Some 1
Acquired bilateral short Achilles tendon (disorder) Associated morphology True Abnormal shortening Inferred relationship Some 2
Acquired bilateral short Achilles tendon (disorder) Associated morphology True Abnormal shortening Inferred relationship Some 1
Congenital amputation of upper limb Associated morphology False Abnormal shortening Inferred relationship Some 2
Intrauterine amputation of lower limb Associated morphology False Abnormal shortening Inferred relationship Some 2
Acquired short Achilles tendon Associated morphology True Abnormal shortening Inferred relationship Some 1
Dental arch length loss Associated morphology True Abnormal shortening Inferred relationship Some 1
Dental arch length loss due to congenitally missing teeth Associated morphology True Abnormal shortening Inferred relationship Some 1
Dental arch length loss due to dental caries Associated morphology True Abnormal shortening Inferred relationship Some 1
Dental arch length loss due to loss of permanent teeth Associated morphology True Abnormal shortening Inferred relationship Some 1
Dental arch length loss due to loss of deciduous teeth Associated morphology True Abnormal shortening Inferred relationship Some 1
Bilateral complete phocomelia of lower limb Associated morphology True Abnormal shortening Inferred relationship Some 1
Bilateral complete phocomelia of lower limb Associated morphology True Abnormal shortening Inferred relationship Some 2
Bilateral complete phocomelia of upper limb Associated morphology True Abnormal shortening Inferred relationship Some 1
Bilateral complete phocomelia of upper limb Associated morphology True Abnormal shortening Inferred relationship Some 2
Congenital short ear Associated morphology True Abnormal shortening Inferred relationship Some 1
Longitudinal deficiency of foot Associated morphology True Abnormal shortening Inferred relationship Some 1
Longitudinal deficiency of upper and lower limbs Associated morphology True Abnormal shortening Inferred relationship Some 1
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994. Associated morphology True Abnormal shortening Inferred relationship Some 3
Short umbilical cord Associated morphology True Abnormal shortening Inferred relationship Some 1
A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal. Associated morphology True Abnormal shortening Inferred relationship Some 3
A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. Associated morphology True Abnormal shortening Inferred relationship Some 1
Unequal lower limb length due to acquired shortening of left tibia Associated morphology True Abnormal shortening Inferred relationship Some 1
Unequal lower limb length due to acquired shortening of left femur (disorder) Associated morphology True Abnormal shortening Inferred relationship Some 1
Unequal lower limb length due to acquired shortening of right femur Associated morphology True Abnormal shortening Inferred relationship Some 1
Unequal lower limb length due to acquired shortening of right tibia (disorder) Associated morphology True Abnormal shortening Inferred relationship Some 1
Unequal lower limb length due to acquired shortening of left fibula Associated morphology True Abnormal shortening Inferred relationship Some 1
Unequal upper limb length due to acquired shortening of left humerus Associated morphology True Abnormal shortening Inferred relationship Some 1
Unequal lower limb length due to acquired shortening of right fibula (disorder) Associated morphology True Abnormal shortening Inferred relationship Some 1

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