66510004: Congenital anomaly of upper limb (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb

Status: current, 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 anomaly of upper limb	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Congenital anomaly of upper limb	Associated morphology	dysgenese	false	Inferred relationship	Some
Congenital anomaly of upper limb	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of upper limb	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some
Congenital anomaly of upper limb	Is a	Disorder of upper limb (disorder)	true	Inferred relationship	Some
Congenital anomaly of upper limb	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	1
Congenital anomaly of upper limb	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of upper limb	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	true	Inferred relationship	Some	1
Congenital anomaly of upper limb	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of upper limb	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of upper limb	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of upper limb	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	2
Congenital anomaly of upper limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of upper limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of upper limb	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Constriction ring syndrome of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Intrauterine amputation of lower limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Aberrant muscle of the upper limb	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Failure of differentiation of bones of forearm	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Duplication of upper limb	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Overgrowth of upper limb	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Underudvikling af overekstremitet	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of humerus	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of radius	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of ulna	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of carpal bone	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Leri-Weill dyschondrosteosis	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital cubitus varus	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of finger	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital dislocation of glenohumeral joint	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of hand (disorder)	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Kongenit manglende underarm med hånd OG fingre	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Madelung's deformity	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Manus cava	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Reduction deformity of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital absence of finger	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Kongenit forkortet af arm	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Manus plana	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital cubitus valgus	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Longitudinal deficiency of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital deformity of clavicle	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
mirror hands	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital bent humerus (disorder)	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital bent radius	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital bent ulna	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Holt-Oram syndrome	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Hypoplasia of upper limb	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomalies of elbow and upper arm	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Andre specificerede reduktionsdeformiteter af overekstremitet	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
anden overekstremitets- og skulderanomali	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
anden manglende differentiering af bløddel i arm	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
anden manglende differentiering af knoglevæv i arm	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
anden manglende differentiering af knoglevæv i arm, ikke nærmere specificeret	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
[X]Other congenital malformations of upper limb(s), including shoulder girdle	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Kongenit mangelfuld udvikling af overekstremitet, ikke nærmere specificeret	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Developmental displacement of brachial plexus	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Brachymetapodia	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital absence of scapula	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital abnormal shape of scapula	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital bent scapula	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of scapula	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Manus plana	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital abnormal shape of clavicle	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Kongenit manglende del af arm	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital absence of upper limb	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Kongenit forkortet af arm	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Reduction deformity of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of blood vessel of upper limb (disorder)	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Kongenit manglende underarm med hånd OG fingre	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Oto-onycho-peroneal syndrome	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
kongenit forkortet overarm	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Talipomanus	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Manus cava	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
mirror hands	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Madelung's deformity	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital bent ulna	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital bent humerus (disorder)	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital bent radius	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Kongenit manglende underarm med hånd OG fingre	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Phocomelia of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Reduction deformity of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital dislocation of elbow (disorder)	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital ankylosis of elbow	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Ectromelia of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Longitudinal deficiency of part of upper limb (disorder)	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Holt-Oram syndrome is the most common form of heart-hand syndrome with characteristics of skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. The clinical picture of covers a wide spectrum of upper extremity defects, always including the radial ray, and cardiac defects. Caused by a mutation in the TBX5 gene located on the long arm of chromosome 12 (12q24.1).	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital deformity of left upper limb (disorder)	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
A rare, genetic multiple congenital anomalies syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with active extension impossible) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital deformity of right upper limb (disorder)	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital complete absence of upper limb	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital negative ulnar variant of wrist (disorder)	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Condition where the ulna projects more distally relative to the radius.	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital anomaly of bone of shoulder girdle (disorder)	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
A rare hereditary motor and sensory neuropathy with characteristics of flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
A rare genetic primary bone dysplasia disorder with characteristics of short stature, hyperlordosis, protuberant abdomen, mild bilateral genu varum, bowed and shortened forearms with limited elbow extension and discrete facial dysmorphism (prominent forehead, hypertelorism, flat nasal bridge). Radiographically moderate platyspondyly, including posterior wedging with anterior bullet-shaped vertebral bodies, with minimal metaphyseal abnormalities are observed.	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
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.	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
udviklingsrelateret luksation af led i skulderområde	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Congenital subluxation of carpus	Is a	True	Congenital anomaly of upper limb	Inferred relationship	Some
Mesomelic dysplasia of upper limb (disorder)	Is a	False	Congenital anomaly of upper limb	Inferred relationship	Some
Excision of anlage of radius (procedure)	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	2
Excision of anlage of ulna	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	3
Centralization of carpus for correction of congenital deformity of forearm	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	2
Revision release radius- correction for congenital deformity of forearm	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	3
Revision release ulna- correction for congenital deformity of forearm	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	3
Radialization correction for radial club hand	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	3
Correction of upper limb congenital ring constriction band	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	1
Correction of obstetric palsy	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	2
Centralisation carpus correction for radial club hand	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	3
Correction of congenital deformity of upper limb	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	2
Reconstruction of radial club hand (procedure)	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	3
Korrektion af kongenit deformitet i skulder eller overarm	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	2
L'Episcopo operation for obstetric palsy (procedure)	Has focus	False	Congenital anomaly of upper limb	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
110505011	Congenital anomaly of upper limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500446015	Congenital abnormality of upper limb and shoulder girdle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
806131013	Congenital anomaly of upper limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1875411000005119	Kongenit anomali i overekstremitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)