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719946008: camptodactylie de Tel Hashomer (trouble)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1009441000172111 camptodactylie de Tel Hashomer fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3318551015 Tel Hashomer camptodactyly syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3318552010 Tel Hashomer camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
755041000241115 camptodactylie de Tel Hashomer (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
3318553017 A rare syndrome with characteristics of camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Dysmorphic features include facial asymmetry, hypertelorism, broad nasal bridge, long philtrum and a small mouth. Winging scapulae, scoliosis, syndactyly and clinodactyly are commonly observed. The affected patients usually have normal mental development. The molecular basis of the syndrome has not yet been elucidated. 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
camptodactylie de Tel Hashomer survenue (attribut) congénital true Inferred relationship Some 2
camptodactylie de Tel Hashomer morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
camptodactylie de Tel Hashomer survenue (attribut) congénital true Inferred relationship Some 3
camptodactylie de Tel Hashomer Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
camptodactylie de Tel Hashomer Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
camptodactylie de Tel Hashomer morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
camptodactylie de Tel Hashomer morphologie associée (attribut) Flexion deformity false Inferred relationship Some 3
camptodactylie de Tel Hashomer survenue (attribut) congénital true Inferred relationship Some 1
camptodactylie de Tel Hashomer localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand true Inferred relationship Some 3
camptodactylie de Tel Hashomer Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
camptodactylie de Tel Hashomer localisation d'une constatation (attribut) doigt de la main, sauf le pouce true Inferred relationship Some 2
camptodactylie de Tel Hashomer localisation d'une constatation (attribut) face true Inferred relationship Some 1
camptodactylie de Tel Hashomer est un(e) (attribut) Congenital anomaly of finger true Inferred relationship Some
camptodactylie de Tel Hashomer morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 3
camptodactylie de Tel Hashomer est un(e) (attribut) déformation en flexion de la main true Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) constatation à propos de la structure musculosquelettique d'un doigt de la main true Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) Congenital deformity of hand (disorder) true Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) Camptodactyly true Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
camptodactylie de Tel Hashomer est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
camptodactylie de Tel Hashomer morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
camptodactylie de Tel Hashomer survenue (attribut) congénital false Inferred relationship Some 4
camptodactylie de Tel Hashomer survenue (attribut) congénital false Inferred relationship Some 5
camptodactylie de Tel Hashomer survenue (attribut) congénital false Inferred relationship Some 6
camptodactylie de Tel Hashomer localisation d'une constatation (attribut) doigt de la main, sauf le pouce false Inferred relationship Some 4
camptodactylie de Tel Hashomer morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
camptodactylie de Tel Hashomer morphologie associée (attribut) Flexion deformity false Inferred relationship Some 6
camptodactylie de Tel Hashomer localisation d'une constatation (attribut) Musculoskeletal structure of digit of hand false Inferred relationship Some 6
camptodactylie de Tel Hashomer localisation d'une constatation (attribut) face false Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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