164835000: Limb length (observable entity)

SNOMED CT Concept\Observable entity (observable entity)\Clinical history/examination observable (observable entity)\Body region observable\Limb structure observable\Limb length

Status: current, Not 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
Limb length	Is a	Limb structure observable	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Limb length	Finding site	Limb structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Arm length	Is a	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)
Leg length	Is a	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Robinow syndrome	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Langer mesomelic dysplasia syndrome	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Nievergelt's syndrome	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Leri-Weill dyschondrosteosis	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mesomelic dysplasia	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Mesomelic dysplasia Kantaputra type (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cleidorhizomelic syndrome (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dyschondrosteose - Nephritis	Interprets	False	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Reinhardt Pfeiffer mesomelic dysplasia	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Thoracic dysplasia and hydrocephalus syndrome (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Autosomal recessive Robinow syndrome	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Autosomal dominant Robinow syndrome (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Brachydactyly type A6 (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
X-linked spondyloepimetaphyseal dysplasia	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Axial spondylometaphyseal dysplasia (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Multiple epiphyseal dysplasia Lowry type	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal recessive omodysplasia	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Bone dysplasia lethal Holmgren type (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rhizomelic dysplasia of Patterson Lowry type (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Smith McCort dysplasia (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Regressive spondylometaphyseal dysplasia (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)	Interprets	True	Limb length	Inferred relationship	Existential restriction modifier (core metadata concept)	7

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
256416011	Limb length	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
256417019	Limb length measurement	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
546207013	Limb length (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
256416011	Limb length	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
256416011	Limb length	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
256417019	Limb length measurement	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
256417019	Limb length measurement	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
546207013	Limb length (observable entity)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
546207013	Limb length (observable entity)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core