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720602007: Camptodactyly syndrome Guadalajara type 1 (disorder)


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
3321500017 Camptodactyly syndrome Guadalajara type 1 (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321501018 Camptodactyly syndrome Guadalajara type 1 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321506011 A rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. To date only eight cases have been reported in the literature. Dysmorphic features include flat face, epicanthic folds, telecanthus, small downturned mouth, small ears with attached lobule and abnormal dental eruption and occlusion. Some patients had psychomotor development delayed. The reported cases suggest the condition is hereditary and is transmitted as an autosomal recessive trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
922511000172118 camptodactylie de Guadalajara type 1 fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
882331000172115 camptodactyliesyndroom, Guadalajara-type 1 nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly syndrome Guadalajara type 1 (disorder) Finding site Face structure false Inferred relationship Some 6
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Camptodactyly true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Congenital abnormal shape of digit false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Congenital deformity false Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence Congenital false Inferred relationship Some 4
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence Congenital false Inferred relationship Some 5
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 6
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence Congenital false Inferred relationship Some 6
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 4
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology Congenital flexion deformity false Inferred relationship Some 5
Camptodactyly syndrome Guadalajara type 1 (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 5
Camptodactyly syndrome Guadalajara type 1 (disorder) Finding site Finger structure false Inferred relationship Some 4
Camptodactyly syndrome Guadalajara type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence Congenital true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence Congenital true Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 1 (disorder) Occurrence Congenital true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 1 (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 1 (disorder) Finding site Musculoskeletal structure of digit of hand true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 (disorder) Finding site Finger structure true Inferred relationship Some 3
Camptodactyly syndrome Guadalajara type 1 (disorder) Finding site Face structure true Inferred relationship Some 2
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology Flexion deformity false Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Congenital anomaly of finger true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 1
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Flexion deformity of hand true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Finding of musculoskeletal structure of digit of hand true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Camptodactyly syndrome Guadalajara type 1 (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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