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715440003: Mirror hands and feet co-occurrent with nasal defect (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302639010 Mirror hands and feet co-occurrent with nasal defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302640012 Mirror hands and feet co-occurrent with nasal defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302641011 Laurin Sandrow syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302642016 Sandrow syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400899015 Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400900013 Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The aetiology of LSS is unknown. Different modes of inheritance have been suggested. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Polysyndactyly syndrome false Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Dysostosis of bone of skull false Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Occurrence Congenital true Inferred relationship Some 2
Mirror hands and feet co-occurrent with nasal defect (disorder) Occurrence Congenital true Inferred relationship Some 3
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Mirror hands and feet co-occurrent with nasal defect (disorder) Finding site Digit structure true Inferred relationship Some 2
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Mirror hands and feet co-occurrent with nasal defect (disorder) Finding site Bone structure of cranium false Inferred relationship Some 3
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Supernumerary structure false Inferred relationship Some 1
Mirror hands and feet co-occurrent with nasal defect (disorder) Occurrence Congenital true Inferred relationship Some 1
Mirror hands and feet co-occurrent with nasal defect (disorder) Finding site Digit structure true Inferred relationship Some 1
Mirror hands and feet co-occurrent with nasal defect (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Mirror hands and feet co-occurrent with nasal defect (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Mirror hands and feet co-occurrent with nasal defect (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Supernumerary structure true Inferred relationship Some 2
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Dysplasia false Inferred relationship Some 3
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Polysyndactyly (disorder) true Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Congenital anomaly of nose true Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Mirror hands and feet co-occurrent with nasal defect (disorder) Finding site Nasal structure true Inferred relationship Some 3
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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