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715986009: Camptodactyly with joint contracture and facial skeletal defect syndrome (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 Reference Sets
3304330019 Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3304331015 Camptodactyly with joint contracture and facial skeletal defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3304332010 Rozin Hertz Goodman syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3304333017 Rozin camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3304334011 The association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Only four cases have been reported in the literature so far. The mode of inheritance remains to be confirmed, but both autosomal dominant and recessive transmission have been considered. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Is a Camptodactyly true Inferred relationship Some
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Is a Arthrogryposis true Inferred relationship Some
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Some 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 7
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Face structure true Inferred relationship Some 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology dysgenese false Inferred relationship Some 6
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Face structure false Inferred relationship Some 6
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Finger structure false Inferred relationship Some 7
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology Contracture false Inferred relationship Some 5
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Joint structure false Inferred relationship Some 5
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Finger structure false Inferred relationship Some 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology Flexion deformity false Inferred relationship Some 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Is a Congenital anomaly of joint (disorder) false Inferred relationship Some
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Joint structure false Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 3
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder) Finding site Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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