43476002: Brachydactyly (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly
\Deformity (finding)\Congenital deformity (disorder)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly

\Finding of limb structure (finding)\Deformity of limb (finding)\Longitudinal deficiency of part of limb (disorder)\Brachydactyly
\Finding of limb structure (finding)\Disorder of limb\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Longitudinal deficiency of part of limb (disorder)\Brachydactyly
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Brachydactyly

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Brachydactyly	Is a	Congenital anomaly of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Finding site	Musculoskeletal system structure of digit (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Is a	Disorder of digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly	Is a	Congenital anomaly of digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Is a	Longitudinal deficiency of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Is a	Deformity (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Is a	Deformity of limb (finding)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly	Is a	Longitudinal deficiency of limb	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Associated morphology	Abnormally short growth	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Brachydactyly	Associated morphology	Abnormally short growth	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Is a	Longitudinal deficiency of part of limb (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Finding site	Entire digit	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Brachydactyly	Is a	Congenital deformity (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly	Is a	Congenital abnormal shape of digit	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Brachydactyly of toes	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
symbrachydactylie	Is a	False	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly of hand (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Weill-Marchesani syndrome	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachyphalangia	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type E	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly NOS	Is a	False	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type B (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly syndrome type C	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachymegalodactyly	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Longitudinal deficiency of phalanges of hand (disorder)	Is a	False	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Microdactyly	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly-missing phalanx	Is a	False	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly-all 3 phalanges	Is a	False	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type A2 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type A5 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type A7	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Cooks syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Heart-hand syndrome Slovenian type (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Hirschsprung disease with type D brachydactyly syndrome	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Mammary digital nail syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Ballard syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Long thumb brachydactyly syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Symbrachydactyly	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly elbow wrist dysplasia (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly, mesomelia, intellectual disability, heart defect syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type B2 (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
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.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly of finger of right hand	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly of finger of left hand (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Temtamy preaxial brachydactyly syndrome (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly, short stature, retinitis pigmentosa syndrome	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Hand-foot-genital syndrome	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Brachydactyly type D (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
A congenital malformation characterized by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait.	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)
Sugarman brachydactyly (disorder)	Is a	True	Brachydactyly	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
72517016	Brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780492016	Brachydactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
72517016	Brachydactyly	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
72517016	Brachydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
780492016	Brachydactyly (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
780492016	Brachydactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
23261000077114	brachydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
23261000077114	brachydactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module