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1263463009: Rhizomelic dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5168760012 Rhizomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168761011 Rhizomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168762016 Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5168760012 Rhizomelic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168761011 Rhizomelic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5168762016 Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

17 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Rhizomelic dysplasia (disorder) Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Is a Congenital anomaly of limb false Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia (disorder) Interprets Limb length true Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic dysplasia (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 2
Rhizomelic dysplasia (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic dysplasia (disorder) Finding site Bone structure of extremity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic dysplasia (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Rhizomelic dysplasia (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Rhizomelic syndrome Urbach type Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Thoracic dysplasia and hydrocephalus syndrome (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Cleidorhizomelic syndrome (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Langer mesomelic dysplasia syndrome Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Axial spondylometaphyseal dysplasia (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Multiple epiphyseal dysplasia Lowry type Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
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. Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Bone dysplasia lethal Holmgren type (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Rhizomelic dysplasia of Patterson Lowry type (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Smith McCort dysplasia (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive spondylometaphyseal dysplasia Megarbane type (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Regressive spondylometaphyseal dysplasia (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Rhizomelic dysplasia (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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