60475009: Congenital anomaly of limb (disorder)

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

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

\Disease\Disorder of extremity (disorder)\Congenital anomaly of limb
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of 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 limb	Is a	Congenital anomaly of musculoskeletal system	false	Inferred relationship	Some
Congenital anomaly of limb	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some
Congenital anomaly of limb	Is a	Disorder of extremity (disorder)	true	Inferred relationship	Some
Congenital anomaly of limb	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of limb	Finding site	Limb structure	false	Inferred relationship	Some	1
Congenital anomaly of limb	Finding site	Limb structure	true	Inferred relationship	Some	1
Congenital anomaly of limb	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
Congenital anomaly of limb	Is a	kongenital anomali	false	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of limb	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	2
Congenital anomaly of limb	Finding site	Limb structure	false	Inferred relationship	Some	2
Congenital anomaly of limb	Is a	Congenital malformation	true	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of limb	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital anomaly of limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
medfödd minskad tillväxt av fot	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Syndactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital abnormality of lower limb and pelvic girdle	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital abnormality of foot and toes (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
perodaktyli	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Holt-Oram syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Anisomelia (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Phocomelia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Multiple malformation syndrome with facial-limb defects as major feature	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
lymfopen agammaglobulinemi, kortvuxenhetssyndrom med korta lemmar	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Notomelus	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Dimelia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Polydactyly (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Brachydactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Partial congenital absence of limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of upper limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Longitudinal deficiency of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Absent finger	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Brachymegalodactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Splayleg in piglets	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Polymelia	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital abnormal shape of digit	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
medfödd ankylodaktyli	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of claw	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of paw	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital hyperextension of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Macromelia	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital hyperflexion of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital hypoplasia of paw	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital malposition of digit	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital malposition of paw	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital malrotation of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Duplication of whole limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
underutveckling av hel extremitet	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
medfödda missbildningssyndrom som omfattar extremiteter	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Aglossia-adactyly syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Multiple pterygium syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Popliteal pterygium syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
förtvinad extremitet	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Adactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Other congenital limb anomalies	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Reduction deformity of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital absence of limb NOS	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Amelia of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Ectromelia of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Hemimelia of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Phocomelia of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital amputation of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Longitudinal reduction deformity of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Other specified reduction deformities of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Brachymelia NOS	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Other duplication of limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Other overgrowth of limb NOS	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Other specified anomalies of unspecified limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of unspecified limb NOS	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
[X]Other reduction defects of unspecified limb(s)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
[X]Other specified congenital malformations of limb(s)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital absence of digits NOS	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Reduction deformity of unspecified limb NOS	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Anonychia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Pachyonychia congenita syndrome	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Amelia	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Ectrodactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of lower limb (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital onychauxis	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Other congenital anomalies of lower leg	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital bony fusion of phalanges (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Geleophysic dysplasia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of digit (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of nail	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Other congenital anomalies of upper leg	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Jeune thoracic dystrophy (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Constricting band of extremity (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Oromandibular-limb hypogenesis spectrum	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of blood vessel of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
medfödd minskad tillväxt av fot	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Ectrodactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital bony fusion of phalanges (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Partial congenital absence of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Constricting band of extremity (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Mullerian duct and limb anomalies syndrome (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Micromelia	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Acrorenal syndrome (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Campomelia Cumming type (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Angel-shaped phalangoepiphyseal dysplasia (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Fuhrmann syndrome (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Pterygia, heart anomaly, autosomal recessive inheritance, vertebral defect, ear anomaly, radial defect syndrome (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
5-amino-4-imidazole carboxamide ribosiduria (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
X-linked lethal multiple pterygium syndrome (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Carney complex, trismus, pseudocamptodactyly syndrome	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Postaxial tetramelic oligodactyly	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Thrombocythemia with distal limb defect (disorder)	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital microgastria with limb reduction defect syndrome (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Ectromelia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
mikromeli enligt Fryn	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Heart defect and limb shortening syndrome (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
100477011	Congenital anomaly of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
100478018	Congenital anomaly of limb, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
100479014	Congenital deformity of limb, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
100480012	Congenital deformity of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498748013	Congenital abnormality of the limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
799431015	Congenital anomaly of limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2007641000052111	medfödd missbildning av extremitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
4853941000052112	medfödd anomali av extremitet	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)