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11182007: Abnormally short growth (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
19368017 Abnormally short growth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
633868015 Abnormally short growth (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormally short growth (morphologic abnormality) Is a Congenital growth alteration false Inferred relationship Some
Abnormally short growth (morphologic abnormality) Is a Abnormal shortening true Inferred relationship Some
Abnormally short growth (morphologic abnormality) Is a Growth alteration true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
symbrachydactylie Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Longitudinal deficiency of tibia AND/OR fibula Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Longitudinal deficiency of limb Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Brachygnathism Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Reduction deformity of lower limb Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Longitudinal deficiency of fibula Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Longitudinal deficiency of radius Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Brachydactyly Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Ectromelia Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Brachydactyly-all 3 phalanges Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Brachymetacarpia Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Micromelia Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Phocomelia of lower limb Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Limb reduction-ichthyosis syndrome Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Synbrachydactyly of hand Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Proximal femoral focal deficiency Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Roberts-SC phocomelia syndrome Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
microsomie partielle Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Brachydactyly syndrome type E Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Acrodysostosis Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
Ectromelia of upper limb Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Weill-Marchesani syndrome (disorder) Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
Longitudinal deficiency of radius AND ulna Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Brachymetatarsia Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Congenital short growth of innominate artery Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Congenital short trunk Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Brachydactyly Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
brachymélie de la jambe Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Congenital undergrowth of partial lower limb Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Congenital undergrowth of whole of lower limb Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Brachymetapody Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
Brachymetapodia of first metatarsal Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
Symbrachydactyly of toe (disorder) Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Brachymetapodia of fourth metatarsal Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
Congenital short urethra Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Congenital undergrowth of foot Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Symbrachydactyly Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Brachymetapody Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Brachymetapody Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Longitudinal deficiency of lower limb Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Longitudinal deficiency of upper limb Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 6
Congenital short quadriceps Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Brachymetapodia of first metatarsal Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Brachymetapodia of fourth metatarsal Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Congenital short urethra Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
symbrachydactylie Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Congenital undergrowth of partial lower limb Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Congenital abnormal vertical shortness of eyelids Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Acromicric dysplasia Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 7
Microdactyly Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
A rare congenital limb malformation characterized by short middle phalanges of the 2nd and 5th fingers and absence of the middle phalanges of toes 2 to 5. Occasionally, the 4th digit may be affected and manifests with an abnormally shaped middle phalanx which causes radial deviation of the distal phalanx. Other hand/foot malformations, such as syndactyly, polydactyly, reduction defects and symphalangism, may be associated. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
A rare primary bone dysplasia disorder characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Weill-Marchesani syndrome (disorder) Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Familial digital arthropathy-brachydactyly is characterized 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. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown aetiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhoea, vomiting and failure to thrive. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Brachydactyly syndrome type E Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Acromicric dysplasia Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Brachydactyly syndrome type B (disorder) Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Brachydactyly syndrome type C (disorder) Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Longitudinal deficiency of part of upper limb (disorder) Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Brachymelia of lower limb (disorder) Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Symbrachydactyly of toe (disorder) Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 7
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 9
An extremely rare polymalformative syndrome. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 6
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
A rare genetic disease characterized by the association of unilateral or bilateral short fifth metacarpals (defined as a gap of 2 mm or more between the distal end of the fifth metacarpal bone and a tangential line connecting the distal ends of the third and fourth metacarpals), insulin resistance, and spherocytosis. Familial short stature has not been reported as part of the syndrome. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Short tarsus - absence of lower eyelashes is a very rare syndrome characterized by the association of thin and short upper and lower tarsus and absence of the lower eyelashes. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 6
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 8
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 5
A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Congenital short esophagus (disorder) Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 7
Guttmacher syndrome is an extremely rare syndrome characterized by hypoplastic thumbs and halluces, 5th finger clinobrachydactyly, postaxial polydactyly of the hands, short or uniphalangeal 2nd toes with absent nails and hypospadias. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 3
Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals, in the absence of renal disease. Autosomal recessive inheritance has been suggested. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 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. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 8
A rare genetic, congenital malformation syndrome characterized by the combination bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns. There have been no further descriptions in the literature since 1988. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 2
A rare thoracic malformation characterized by fixation of the scapula to the first rib by a congenitally short costocoracoid ligament, leading to limited rotation or retraction of the scapula, as well as rounding of the shoulders and loss of the anterior clavicular contour. There have been no further descriptions in the literature since 1989. Associated morphology True Abnormally short growth (morphologic abnormality) Inferred relationship Some 1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 6
Caudal appendage-deafness syndrome is characterized by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys. Associated morphology False Abnormally short growth (morphologic abnormality) Inferred relationship Some 4

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