60475009: Congenital anomaly of limb (disorder)

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb
\Disease\Disorder of limb (disorder)\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	dysgenese	false	Inferred relationship	Some
Congenital anomaly of limb	Is a	Disorder of limb (disorder)	true	Inferred relationship	Some
Congenital anomaly of limb	Is a	Congenital disease	false	Inferred relationship	Some
Congenital anomaly of limb	Associated morphology	kongenit 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	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of limb	Is a	kongenit anomali	false	Inferred relationship	Some
Congenital anomaly of limb	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of limb	Associated morphology	dysgenese	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	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
Kongenit underudvikling af fod	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 anomaly of foot	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 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	False	Congenital anomaly of limb	Inferred relationship	Some
Anisomelia	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
lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Notomelus (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Dimelia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Polydactyly	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 (disorder)	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
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	Some
Congenital abnormal shape of digit	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Kongenit 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
underudvikling af hel arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Kongenit misdannelsessyndrom med involvering af ekstremiteter	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
vissen ekstremitet	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Adactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
andre kongenitte arm- eller benanomalier	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
reduktionsdeformitet af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Kongenit manglende arm eller ben, ikke nærmere specificeret	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Ameli af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Ektromeli af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
hemimeli af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
fokomeli af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Kongenit amputation af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
longitudinel reduktionsdeformitet af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Andre specificerede reduktionsdeformiteter af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
brakymeli, ikke nærmere specificeret	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
anden duplikation af arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Anden overudvikling af arm eller ben, ikke nærmere specificeret	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Andre specificerede anomalier af uspecificeret arm eller ben	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
kongenit anomali af uspecificeret arm eller ben, ikke nærmere specificeret	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
kongenit manglende fingre eller tæer, ikke nærmere specificeret	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Reduktionsdeformitet af uspecificeret arm eller ben, ikke nærmere specificeret	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
Congenital complete absence of limb	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Ectrodactyly	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Congenital anomaly of lower limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Congenital onychauxis	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
andre kongenitte anomalier af underben	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
andre kongenitte anomalier af lår	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A short-rib dysplasia with characteristics of narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes. In rare cases, postaxial polydactyly may also be present. The narrow thorax may cause neonatal respiratory failure, and may be associated with persistent respiratory manifestations. The growth rate is variable but may be almost normal. Intellectual development is normal. The molecular basis of the syndrome has been partially elucidated indicating involvement of the IFT80 (3q25.33), DYNC2H1 (11q22.3), WDR19 (4p14) and TTC21B (2q24.3) genes, each encoding an intraflagellar transport protein. The syndrome is transmitted as an autosomal recessive trait.	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
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	Some
Congenital anomaly of blood vessel of limb	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Kongenit underudvikling af fod	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
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	Some
Micromelia	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
Campomelia, Cumming type, is characterized by the association of limb defects and multivisceral anomalies.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
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	Some
Autosomal recessive aplasia cutis congenita of limb (disorder)	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.	Is a	True	Congenital anomaly of limb	Inferred relationship	Some
X-linked lethal multiple pterygium syndrome is a rare, genetic, developmental defect during embryogenesis characterized by the typical lethal multiple pterygium syndrome presentation (comprising of multiple pterygia, severe arthrogryposis, cleft palate, cystic hygromata and/or fetal hydrops, skeletal abnormalities and fetal death in the 2nd or 3rd trimester) with an X-linked pattern of inheritance.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized 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	Some
Ectromelia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
Micromelic spondyloepimetaphyseal dysplasia	Is a	False	Congenital anomaly of limb	Inferred relationship	Some
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	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
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
4896521000005118	kongenit anomali i ekstremitet	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)