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60475009: Congenital anomaly of limb (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
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
100477011 Congenital anomaly of limb en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
100477011 Congenital anomaly of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
100480012 Congenital deformity of limb en Synonym (core metadata concept) Active 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 Only initial character 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 Only initial character 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
3383671001000111 Extremitätenfehlbildung, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
123291000077111 anomalie congénitale d'un membre fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
123291000077111 anomalie congénitale d'un membre fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3383671001000111 Extremitätenfehlbildung, kongenitale de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1605 descendants. Search Descendants:

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 Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Finding site Musculoskeletal structure of limb (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Is a Disorder of limb true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Is a Congenital disease false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Finding site Limb structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Is a Congenital anomaly false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of limb Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of limb Finding site Limb structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of limb Is a Congenital malformation true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of limb Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of limb Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital undergrowth of foot Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Syndactyly Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormality of lower limb and pelvic girdle Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of foot Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Perodactylia Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Holt-Oram syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Anisomelia Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with facial-limb defects as major feature Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Notomelus Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Dimelia Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Polydactyly (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Brachydactyly Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Partial congenital absence of limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of upper limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal deficiency of limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Limb reduction-ichthyosis syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Absent finger Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Brachymegalodactyly Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Splayleg in piglets Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Polymelia Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital abnormal shape of digit Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ankylodactyly Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of claw Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of paw Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperextension of limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Macromelia (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hyperflexion of limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of paw Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of digit Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malposition of paw Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malrotation of limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Duplication of whole limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
croissance partielle d'un membre entier Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital malformation syndromes involving limbs Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Aglossia-adactyly syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Multiple pterygium syndrome (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Popliteal pterygium syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
membre atrophié Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Adactyly Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Other congenital limb anomalies Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Reduction deformity of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of limb NOS Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Amelia of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Ectromelia of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Hemimelia of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Phocomelia of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital amputation of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Longitudinal reduction deformity of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Other specified reduction deformities of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Brachymelia NOS Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Other duplication of limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Other overgrowth of limb NOS Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Other specified anomalies of unspecified limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of unspecified limb NOS Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other reduction defects of unspecified limb(s) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
[X]Other specified congenital malformations of limb(s) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital absence of digits NOS Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Reduction deformity of unspecified limb NOS Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Anonychia Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Pachyonychia congenita syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital complete absence of limb Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of lower limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital onychauxis Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Other congenital anomalies of lower leg Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bony fusion of phalanges (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Geleophysic dysplasia Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of digit Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of nail Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Other congenital anomalies of upper leg Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Jeune thoracic dystrophy (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Constricting band of extremity (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of blood vessel of limb (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital undergrowth of foot Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Ectrodactyly (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Congenital bony fusion of phalanges (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Partial congenital absence of limb Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Constricting band of extremity (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Micromelia (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Acrorenal syndrome Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Campomelia Cumming type (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Angel-shaped phalangoepiphyseal dysplasia (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Fuhrmann syndrome Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia, heart anomalies, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive aplasia cutis congenita of limb (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
5-amino-4-imidazole carboxamide ribosiduria (disorder) Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome Is a True Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
X-linked lethal multiple pterygium syndrome (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Carney complex, trismus, pseudocamptodactyly syndrome (disorder) Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Postaxial tetramelic oligodactyly Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Thrombocythemia with distal limb defect Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Ectromelia Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
Micromelic spondyloepimetaphyseal dysplasia Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990. Is a False Congenital anomaly of limb Inferred relationship Existential restriction modifier (core metadata concept)

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