34111000: Congenital anomaly of hand (disorder)

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

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

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

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Oculodento-osseous dysplasia	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Manus valga	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Manus vara	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
A rare syndromic intellectual disability disorder with characteristics of moderate intellectual disability, variable hand abnormalities (including brachydactyly, cutaneous and osseous syndactyly) and facial dysmorphism that includes short palpebral fissures, bulbous nasal tip, thin upper and lower vermilion and broad, pointed chin. Other features, including obesity, microcephaly, short stature and a grimacing smile may be observed.	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Congenital deformity of right hand (disorder)	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Congenital deformity of left hand (disorder)	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Congenital absence of forearm and hand	Is a	False	Congenital anomaly of hand (disorder)	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	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Acheiropodia	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
A rare syndrome characterized by an arthrogryposis-like hand anomaly and sensorineural deafness. It has been described in only one family. Male-to-male transmission was observed.	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Papillon-Lefèvre syndrome	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Acrokeratosis verruciformis of Darier disease (disorder)	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Craniofacial deafness hand syndrome (disorder)	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
A rare arrhythmogenic right ventricular cardiomyopathy (ARVC) and a cutaneous phenotype, characterized by peculiar wooly hair and palmoplantar keratoderma.	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Camptodactyly-little finger	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
A rare genetic developmental defect during embryogenesis syndrome with characteristics of camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism and microcephaly. There have been no further descriptions in the literature since 1992.	Is a	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Correction of congenital deformity of hand	Has focus	False	Congenital anomaly of hand (disorder)	Inferred relationship	Some	2
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
A rare genetic syndrome with limb malformations as a major feature characterized by unilateral or bilateral split-foot malformation, nail abnormalities of the hand, and bilateral sensorineural hearing impairment. Mesoaxial polydactyly of the foot has also been described.	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described.	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Congenital deformity of hand (disorder)	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Correction of congenital anomaly of hand (procedure)	Has focus	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some	2
A rare X-linked syndromic intellectual disability with characteristics of global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Severe clinical presentation was reported in the first male patients described. Following the wide application of molecular genetic testing, the phenotype is now recognized as very variable. Caused by pathogenic variations in the RPS6KA3 gene (Xp22.2-p22.1), which encodes ribosomal protein S6 kinase alpha-3, a growth-factor-regulated protein kinase. An X-linked dominant disorder, about two-thirds of cases occur de novo. Male offspring inheriting the mutation are affected and female carriers can be unaffected or show milder phenotypes.	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
A partial deletion of the long arm of chromosome 4 characterized by complex behavioral difficulties, developmental and delay/ intellectual disability, and minor dysmorphic features, including subtle facial asymmetry (most prominent in the mandible), mild hypotelorism, long nasal bridge, small low-set ears, narrow mouth, and mild hand deformities, such as bilateral short 5th metacarpals, and short hands.	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some
Melorheostosis of bone of hand (disorder)	Is a	True	Congenital anomaly of hand (disorder)	Inferred relationship	Some

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
1228146018	Congenital abnormality of hand and digits	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5069976016	Congenital anomaly of hand (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5069980014	Congenital anomaly of hand	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1873931000005118	Kongenit anomali i hånd	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)