67341007: Longitudinal deficiency of limb (disorder)

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

\Deformity (finding)\Deformity of limb (finding)\Longitudinal deficiency of limb
\Deformity (finding)\Congenital deformity\Longitudinal deficiency of limb

\Finding of limb structure\Deformity of limb (finding)\Longitudinal deficiency of limb
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Longitudinal deficiency of limb
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Longitudinal deficiency of limb
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Longitudinal deficiency of limb

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Longitudinal deficiency of limb	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Longitudinal deficiency of limb	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Longitudinal deficiency of limb	Finding site	Limb structure	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Associated morphology	anomalie du développement	false	Inferred relationship	Some
Longitudinal deficiency of limb	Occurrence	Congenital	false	Inferred relationship	Some
Longitudinal deficiency of limb	Is a	Deformity (finding)	false	Inferred relationship	Some
Longitudinal deficiency of limb	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	Limb structure	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	Limb structure	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Occurrence	Congenital	false	Inferred relationship	Some	2
Longitudinal deficiency of limb	Finding site	Limb structure	false	Inferred relationship	Some	2
Longitudinal deficiency of limb	Is a	Deformity of limb (finding)	true	Inferred relationship	Some
Longitudinal deficiency of limb	Associated morphology	Abnormally short growth (morphologic abnormality)	false	Inferred relationship	Some	2
Longitudinal deficiency of limb	Is a	Congenital disease	false	Inferred relationship	Some
Longitudinal deficiency of limb	Is a	Disorder of limb (disorder)	false	Inferred relationship	Some
Longitudinal deficiency of limb	Occurrence	Congenital	true	Inferred relationship	Some	1
Longitudinal deficiency of limb	Associated morphology	Abnormal shortening	true	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	Limb structure	false	Inferred relationship	Some	1
Longitudinal deficiency of limb	Associated morphology	Abnormal shortening	false	Inferred relationship	Some	2
Longitudinal deficiency of limb	Finding site	Entire limb	false	Inferred relationship	Some	2
Longitudinal deficiency of limb	Is a	Congenital deformity	true	Inferred relationship	Some
Longitudinal deficiency of limb	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Longitudinal deficiency of limb	Finding site	Entire limb	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
microsomie partielle	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
hémimélie	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Ectromelia	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Reduction deformity of upper limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Longitudinal deficiency of lower limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Longitudinal deficiency of upper limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Micromelia	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Phocomelia	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Partial congenital absence of limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Limb reduction-ichthyosis syndrome	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
Congenital absence of paw	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
croissance partielle d'un membre entier	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
membre atrophié	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Reduction deformity of unspecified limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Congenital absence of limb NOS	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Amelia of unspecified limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Longitudinal reduction deformity of unspecified limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Other specified reduction deformities of unspecified limb	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Brachymelia NOS	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
[X]Other reduction defects of unspecified limb(s)	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Reduction deformity of unspecified limb NOS	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Ectromelia	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
Brachydactyly	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
hémimélie	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Longitudinal deficiency of foot	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Brachydactyly	Is a	False	Longitudinal deficiency of limb	Inferred relationship	Some
Reduction deformity of lower limb	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
Reduction deformity of upper limb	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
An extremely rare polymalformative syndrome.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare, severe, multiple congenital anomalies syndrome characterized by severe mandibular hypoplasia, upper limb phocomelia with oligodactyly, absent fibula, and a number of additional skeletal (hypoplastic scapula and ischii, 11 ribs, clubfeet), facial (hypertelorism, hypoplastic supraorbital ridges, wide nasal bridge, microtia with low-set ears) and variable internal organ abnormalities (including arhinencephaly, hypolobulated lungs, and congenital cardiac defects), which usually lead to perinatal death. Surviving patients show features similar to Nagel syndrome.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Is a	True	Longitudinal deficiency 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	True	Longitudinal deficiency 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	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare, genetic, ectodermal dysplasia syndrome characterized by severe hand/foot anomalies, breast and/or nipple hypoplasia, and ectodermal dysplasia (principally teeth and nail anomalies). Cleft lip/palate may be variably present.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including trident aspect of the acetabula and metaphyseal changes.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (including larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (especially of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
Radial deficiency-tibial hypoplasia syndrome is a rare, genetic dysostosis syndrome with combined reduction defects of upper and lower limbs characterized by bilateral radial aplasia, absent thumbs and bilateral tibial hypo/aplasia. Additional bone anomalies (including partial toe hypo/aplasia, short fibula and clubhand) may be associated. There have been no further descriptions in the literature since 1996.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare developmental defect during embryogenesis disorder characterized by spinal dysraphism, cleft lip and palate, limb reduction defects and anencephaly. There have been no further descriptions in the literature since 1994.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare congenital limb malformation syndrome characterized by a highly variable combination of congenital anomalies of the femur, fibula, and/or ulna, which can appear along with finger/toe anomalies at the ulnar/fibular side. Limb defects are asymmetrical, with upper limbs more often affected than lower limbs, and the right side of the body more often affected than the left. Abnormalities of the upper limb include amelia, hypoplasia of the humerus, humero-radial synostosis, and malformation of the ulna and ulnar rays. Abnormalities of the lower limb include absence of the proximal part of the femur and absence of the fibula. Axial skeleton, internal organs and intellectual function are usually normal.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some
A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy.	Is a	True	Longitudinal deficiency of limb	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
111898018	Longitudinal deficiency of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
111902012	Reduction deformity of limb	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
111903019	Limb reduction defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
807055012	Longitudinal deficiency of limb (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4009584010	Hemimelia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
94551000077115	anomalie longitudinale d'un membre	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module