394910004: Congenital malformation of thumb (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand (finding)\Finding of thumb\Congenital malformation of thumb (disorder)
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital malformation of thumb (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital malformation of thumb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2010. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1468850012 Congenital malformation of thumb (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1488614011 Congenital malformation of thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3006593019 Congenital anomaly of thumb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5250081000241112 malformation congénitale du pouce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital malformation of thumb (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Is a	Congenital anomaly of hand (disorder)	true	Inferred relationship	Some
Congenital malformation of thumb (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Congenital malformation of thumb (disorder)	Finding site	Hand structure	false	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Finding site	Hand structure	false	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Is a	Perodactylia	false	Inferred relationship	Some
Congenital malformation of thumb (disorder)	Is a	Finding of thumb	true	Inferred relationship	Some
Congenital malformation of thumb (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Finding site	Thumb structure	false	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Associated morphology	Congenital malformation	false	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Finding site	Thumb structure	true	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital malformation of thumb (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital malformation of thumb (disorder)	Is a	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Congenital malformation of thumb (disorder)	Finding site	Thumb structure	false	Inferred relationship	Some	2
Congenital malformation of thumb (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Congenital malformation of thumb (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acrocephalosyndactyly type V (disorder)	Is a	False	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Hypoplasia of thumb	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Syndactyly of thumb (disorder)	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Congenital absence of thumb	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Bifid thumb	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Polydactyly of thumb	Is a	False	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Thumb in palm deformity	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Congenital trigger finger and trigger thumb	Is a	False	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Triphalangeal thumb	Is a	False	Congenital malformation of thumb (disorder)	Inferred relationship	Some
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
pollice a scatto congenito	Is a	False	Congenital malformation of thumb (disorder)	Inferred relationship	Some
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Macrodactyly of thumb (disorder)	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
An exceedingly rare, autosomal recessive immune disease characterized by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978.	Is a	False	Congenital malformation of thumb (disorder)	Inferred relationship	Some
A rare, genetic, congenital limb malformation syndrome characterized by bilateral thumb ankylosis, type A brachydactyly and mild to moderate intellectual disability. Patients present thumb stiffness and abnormalities of the metacarpal bones, frequently associated with mild facial dysmorphism and signs of obesity. There have been no further descriptions in the literature since 1990.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles.	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait.	Is a	False	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Radial polydactyly	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Congenital abnormal broad shape of distal phalanx of thumb	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Congenital abnormal bullet shape of phalanx of thumb	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Congenital abnormal triangular shape of phalanx of thumb (disorder)	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Congenital ankylosis of interphalangeal joint of thumb	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Congenital abnormal broad shape of proximal phalanx of thumb (disorder)	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Abnormally short first metacarpal (disorder)	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some
Abnormally short phalanx of thumb (disorder)	Is a	True	Congenital malformation of thumb (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1468850012	Congenital malformation of thumb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1488614011	Congenital malformation of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3006593019	Congenital anomaly of thumb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5250081000241112	malformation congénitale du pouce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module