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281242000: Musculoskeletal structure of limb (body structure)

Status: current, Not 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
419216011 Musculoskeletal structure of limb en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
674755015 Musculoskeletal structure of limb (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6090 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Musculoskeletal structure of limb Is a Limb structure true Inferred relationship Some
Musculoskeletal structure of limb Is a Structure of regional musculoskeletal system (body structure) true Inferred relationship Some
Musculoskeletal structure of limb partie de Entire body as a whole false Additional relationship Some
Musculoskeletal structure of limb Laterality Side (qualifier value) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Musculoskeletal structure of upper limb Is a True Musculoskeletal structure of limb Inferred relationship Some
Musculoskeletal structure of lower limb Is a True Musculoskeletal structure of limb Inferred relationship Some
Musculoskeletal system structure of digit (body structure) Is a True Musculoskeletal structure of limb Inferred relationship Some
Agenesis of both forepaws and both hindpaws Finding site False Musculoskeletal structure of limb Inferred relationship Some
Hexadactyly Finding site False Musculoskeletal structure of limb Inferred relationship Some
Talipes equinus Finding site False Musculoskeletal structure of limb Inferred relationship Some
Orofacial-digital syndrome III Finding site False Musculoskeletal structure of limb Inferred relationship Some
Orofacial-digital syndrome IV Finding site False Musculoskeletal structure of limb Inferred relationship Some
Syndactyly Finding site False Musculoskeletal structure of limb Inferred relationship Some
Adactylia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Acromicric dysplasia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Trichorhinophalangeal dysplasia type I Finding site True Musculoskeletal structure of limb Inferred relationship Some 1
Saldino-Mainzer dysplasia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Cranioectodermal dysplasia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Oculodento-osseous dysplasia - severe type Finding site False Musculoskeletal structure of limb Inferred relationship Some
Oculodento-osseous dysplasia - mild type (disorder) Finding site False Musculoskeletal structure of limb Inferred relationship Some
Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Finding site False Musculoskeletal structure of limb Inferred relationship Some
Acromesomelic dysplasia syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by 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. Intellectual disability ranges from mild to severe. Finding site False Musculoskeletal structure of limb Inferred relationship Some
Posttraumatic osteoporosis Finding site False Musculoskeletal structure of limb Inferred relationship Some
Mohr syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Trichorhinophalangeal syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some 3
A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects. Finding site False Musculoskeletal structure of limb Inferred relationship Some
Anisomelia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Phocomelia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Multiple malformation syndrome with facial-limb defects as major feature Finding site False Musculoskeletal structure of limb Inferred relationship Some
microsomie partielle Finding site False Musculoskeletal structure of limb Inferred relationship Some
Townes syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Short rib-polydactyly syndrome, non-Majewski type Finding site False Musculoskeletal structure of limb Inferred relationship Some
Geleophysic dysplasia Finding site False Musculoskeletal structure of limb Inferred relationship Some 2
Notomelus Finding site False Musculoskeletal structure of limb Inferred relationship Some
Ruvalcaba syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
hémimélie Finding site False Musculoskeletal structure of limb Inferred relationship Some
Dimelia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Nager syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Oculodentodigital syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Finding site False Musculoskeletal structure of limb Inferred relationship Some
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Polydactyly Finding site False Musculoskeletal structure of limb Inferred relationship Some
Mietens syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Langer-Giedion syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some 3
A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Finding site False Musculoskeletal structure of limb Inferred relationship Some
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. Finding site False Musculoskeletal structure of limb Inferred relationship Some
Ectromelia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Ruvalcaba-Myhre syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital macrodactyly (disorder) Finding site False Musculoskeletal structure of limb Inferred relationship Some
Roberts-SC phocomelia syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
FG syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Oral-facial-digital syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterised by a generalised skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Finding site False Musculoskeletal structure of limb Inferred relationship Some
Hay-Wells syndrome of ectodermal dysplasia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Finding site False Musculoskeletal structure of limb Inferred relationship Some
Pseudohypoparathyroidism type I A Finding site False Musculoskeletal structure of limb Inferred relationship Some
Partial congenital absence of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital anomaly of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital complete absence of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Larsen syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Apert's syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Miller syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Acrodysostosis Finding site False Musculoskeletal structure of limb Inferred relationship Some
Longitudinal deficiency of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Limb reduction-ichthyosis syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Finding site False Musculoskeletal structure of limb Inferred relationship Some
Absent finger Finding site False Musculoskeletal structure of limb Inferred relationship Some
Short rib-polydactyly syndrome, Majewski type Finding site False Musculoskeletal structure of limb Inferred relationship Some
Mousepox Finding site False Musculoskeletal structure of limb Inferred relationship Some
Micromelia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Brachymegalodactyly Finding site False Musculoskeletal structure of limb Inferred relationship Some
Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Finding site False Musculoskeletal structure of limb Inferred relationship Some
Grebe syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Stickler syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Ectrodactyly Finding site False Musculoskeletal structure of limb Inferred relationship Some
Shprintzen syndrome Finding site False Musculoskeletal structure of limb Inferred relationship Some
Splayleg in piglets Finding site False Musculoskeletal structure of limb Inferred relationship Some
Polymelia Finding site False Musculoskeletal structure 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). Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital absence of claw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital absence of paw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital abnormal shape of digit Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital abnormal shape of forepaw phalanx Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital abnormal shape of hindpaw phalanx Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital ankylodactyly Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital anomaly of claw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital anomaly of paw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital clubbed paw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital hyperextension of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Macromelia Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital hyperextension of paw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital hyperflexion of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital hyperflexion of paw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital hypoplasia of claw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital hypoplasia of paw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malposition of claw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malposition of digit Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malposition of forepaw phalanx Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malposition of hindpaw phalanx Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malposition of paw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malrotation of claw Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malrotation of limb Finding site False Musculoskeletal structure of limb Inferred relationship Some
Congenital malrotation of paw Finding site False Musculoskeletal structure of limb Inferred relationship Some

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

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