11182007: Abnormally short growth (morphologic abnormality)

SNOMED CT Concept\Body structure\Morphologically altered structure\Morphologically abnormal structure\...

\Abnormal shape (morphologic abnormality)\Deformity (morphologic abnormality)\Abnormal shortening\Abnormally short growth

\Mechanical abnormality (morphologic abnormality)\Deformity (morphologic abnormality)\Abnormal shortening\Abnormally short growth

\Growth alteration\Abnormally short growth

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
Abnormally short growth	Is a	Congenital growth alteration	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Abnormally short growth	Is a	Abnormal shortening	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Abnormally short growth	Is a	Growth alteration	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Caudal appendage-deafness syndrome is characterised 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	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	9
Brachydactyly and distal symphalangism syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
A rare congenital limb malformation characterised the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	7
Brachydactyly and distal symphalangism syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Camptobrachydactyly (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Jeune thoracic dystrophy (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Long thumb brachydactyly syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
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.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Symbrachydactyly of digit of hand	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly elbow wrist dysplasia (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly elbow wrist dysplasia (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital bilateral short Achilles tendons	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital bilateral short Achilles tendons	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital bilateral short Achilles tendons	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome	Associated morphology	True	Abnormally short growth	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.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly type B2 (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly with syndactyly Zhao type (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Triphalangeal thumb with brachyectrodactyly syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mammary digital nail syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Craniosynostosis with facial dysmorphism and brachydactyly syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterised 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	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal faciocardiomelic dysplasia (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial digital arthropathy-brachydactyly is characterised 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	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Ballard syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Distal limb deficiency with micrognathia syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Camptobrachydactyly (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cloverleaf skull with multiple congenital anomalies syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Microcephalus with brachydactyly and kyphoscoliosis syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Heart-hand syndrome Slovenian type (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Hirschsprung disease with type D brachydactyly syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Caudal appendage-deafness syndrome is characterised by caudal appendage, short terminal phalanges, deafness, cryptorchidism, intellectual deficit, short stature and dysmorphism. It has been described in monozygotic twin boys.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly and arterial hypertension syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
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	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cryptomicrotia brachydactyly syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epilepsy telangiectasia syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mandibuloacral dysostosis	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Robinow syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic dysostosis disorder with characteristics of brachydactyly and other finger/toe anomalies (short and/or wide metacarpals, abnormal or absent metatarsals, broad halluces), carpal synostosis, fused cervical vertebrae, scoliosis and spina bifida occulta. There have been no further descriptions in the literature since 1984.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly of finger of right hand	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly of finger of left hand (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly of finger of bilateral hands (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly of finger of bilateral hands (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Temtamy preaxial brachydactyly syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly, short stature, retinitis pigmentosa syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly of toes of left foot (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral brachydactyly of toes	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Bilateral brachydactyly of toes	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly of toes of right foot (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short preputial frenulum (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Hand-foot-genital syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachymetatarsia of first metatarsal	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachymetatarsia of fourth metatarsal	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal dominant Robinow syndrome (disorder)	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive Robinow syndrome	Associated morphology	False	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Brachydactyly type D (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly type D (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Symbrachydactyly of bilateral hands and feet (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Symbrachydactyly of bilateral hands and feet (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Symbrachydactyly of bilateral hands and feet (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Symbrachydactyly of bilateral hands and feet (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Mandibuloacral dysplasia with type A lipodystrophy	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Mandibuloacral dysostosis co-occurrent with type B lipodystrophy (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of bilateral fibulae	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Longitudinal deficiency of bilateral fibulae	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Oral-facial-digital syndrome with short stature and brachymesophalangia (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Sugarman brachydactyly (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short stature, brachydactyly, obesity, global developmental delay syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome (disorder)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital brachyesophagus, intrathoracic stomach, vertebral anomalies syndrome	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital short left Achilles tendon	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital short right Achilles tendon	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital diaphragmatic hernia, short bowel, and asplenia. Dysmorphic facial features include long forehead, hypertelorism, upturned nares, and small mandible. Atresia of the duodenum has also been reported.	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short bridge of nose (finding)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short columella of nose (finding)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short nasal septum	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Short philtrum (finding)	Associated morphology	True	Abnormally short growth	Inferred relationship	Existential restriction modifier (core metadata concept)	1

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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
19368017	Abnormally short growth	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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