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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
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
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 Some
Arachnodactyly Is a Congenital anomaly of hand (disorder) false Inferred relationship Some
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Finding site Structure of all fingers false Inferred relationship Some 1
Arachnodactyly Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some
Arachnodactyly Finding site Digit structure true Inferred relationship Some 1
Arachnodactyly Associated morphology Congenital abnormal shape false Inferred relationship Some 2
Arachnodactyly Occurrence Congenital false Inferred relationship Some
Arachnodactyly Associated morphology anomalie du développement false Inferred relationship Some
Arachnodactyly Finding site Structure of all toes false Inferred relationship Some 2
Arachnodactyly Is a Congenital anomaly of toe false Inferred relationship Some
Arachnodactyly Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Arachnodactyly Is a Congenital deformity of foot false Inferred relationship Some
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Finding site Finger structure false Inferred relationship Some 2
Arachnodactyly Is a Congenital anomaly of finger (disorder) false Inferred relationship Some
Arachnodactyly Is a Congenital anomaly of foot false Inferred relationship Some
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Is a Disorder of musculoskeletal system (disorder) false Inferred relationship Some
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 3
Arachnodactyly Is a Congenital macrodactyly (disorder) false Inferred relationship Some
Arachnodactyly Is a Finding of musculoskeletal structure of digit of hand false Inferred relationship Some
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 2
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 1
Arachnodactyly Finding site Digit structure false Inferred relationship Some 1
Arachnodactyly Finding site Digit structure false Inferred relationship Some 2
Arachnodactyly Occurrence Congenital false Inferred relationship Some 3
Arachnodactyly Finding site Digit structure false Inferred relationship Some 3
Arachnodactyly Is a Congenital anomaly of digit (disorder) false Inferred relationship Some
Arachnodactyly Is a Congenital deformity true Inferred relationship Some
Arachnodactyly Is a Deformity of limb (finding) true Inferred relationship Some
Arachnodactyly Associated morphology Abnormally long growth (morphologic abnormality) false Inferred relationship Some 3
Arachnodactyly Occurrence Congenital true Inferred relationship Some 1
Arachnodactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arachnodactyly Associated morphology Abnormally long and slender growth true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital contractural arachnodactyly Is a True Arachnodactyly Inferred relationship Some
à l'examen : arachnodactylie des mains Associated finding False Arachnodactyly Inferred relationship Some 1
à l'examen : arachnodactylie des mains Is a False Arachnodactyly Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Is a True Arachnodactyly Inferred relationship Some
A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophthalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability. Is a True Arachnodactyly Inferred relationship Some
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 Some

This concept is not in any reference sets

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