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62250003: Arachnodactyly (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
103454012 Arachnodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
103455013 Spider finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
103456014 Dolichostenomelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
499232016 Congenital arachnodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
801401013 Arachnodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
103454012 Arachnodactyly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
103454012 Arachnodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
103455013 Spider finger en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
103455013 Spider finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
103456014 Dolichostenomelia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
103456014 Dolichostenomelia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
499232016 Congenital arachnodactyly en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
499232016 Congenital arachnodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
801401013 Arachnodactyly (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
801401013 Arachnodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
70701000077113 arachnodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
70701000077113 arachnodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Arachnodactyly Is a Congenital abnormal shape of digit true Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a Congenital anomaly of hand (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Finding site Structure of all fingers (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Finding site Digit structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Associated morphology Congenital abnormal shape false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Finding site Structure of all toes false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Is a Congenital anomaly of toe false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a Congenital anomaly of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a Congenital deformity of foot (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Finding site Finger structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Is a Congenital anomaly of finger false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a Congenital anomaly of foot false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Is a Disorder of musculoskeletal system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Arachnodactyly Is a Congenital macrodactyly (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a Finding of musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Arachnodactyly Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Arachnodactyly Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Arachnodactyly Is a Congenital anomaly of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a Congenital deformity (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Is a Deformity of limb (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Arachnodactyly Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Arachnodactyly Associated morphology Abnormally long and slender growth true Inferred relationship Existential restriction modifier (core metadata concept) 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital contractural arachnodactyly Is a True Arachnodactyly Inferred relationship Existential restriction modifier (core metadata concept)
à l'examen : arachnodactylie des mains Associated finding False Arachnodactyly Inferred relationship Existential restriction modifier (core metadata concept) 1
à l'examen : arachnodactylie des mains Is a False Arachnodactyly Inferred relationship Existential restriction modifier (core metadata concept)
Harrod syndrome Is a True Arachnodactyly Inferred relationship Existential restriction modifier (core metadata concept)
Arachnodactyly with abnormal ossification and intellectual disability syndrome (disorder) Is a True Arachnodactyly Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995. Is a True Arachnodactyly Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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