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238861002: Juvenile hyaline fibromatosis (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
357982019 Juvenile hyaline fibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
357983012 Puretic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
357984018 Systemic hyalinosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4696609018 Murray Puretic Drescher syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
550011000241112 fibromatose hyaline juvénile (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
627799017 Juvenile hyaline fibromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
874601000172117 syndrome de Murray-Puretic-Drescher fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
994091000172117 fibromatose hyaline juvénile fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
4696770013 A rare hyaline fibromatosis syndrome with characteristics of papulo-nodular skin lesions (especially around the head and neck), soft tissue masses, gingival hypertrophy, joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occurring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous, hyaline material. 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
Juvenile hyaline fibromatosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Juvenile hyaline fibromatosis est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Juvenile hyaline fibromatosis morphologie associée (attribut) Fibrous dysplasia (morphologic abnormality) true Inferred relationship Some 1
Juvenile hyaline fibromatosis survenue (attribut) congénital true Inferred relationship Some 1
Juvenile hyaline fibromatosis est un(e) (attribut) Developmental hereditary disorder false Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) Hyaline fibromatosis syndrome true Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Juvenile hyaline fibromatosis morphologie associée (attribut) Hyaline degeneration true Inferred relationship Some 4
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 3
Juvenile hyaline fibromatosis morphologie associée (attribut) Osteolysis true Inferred relationship Some 3
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) structure articulaire true Inferred relationship Some 2
Juvenile hyaline fibromatosis morphologie associée (attribut) Contracture (morphologic abnormality) true Inferred relationship Some 2
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) structure de la peau true Inferred relationship Some 5
Juvenile hyaline fibromatosis morphologie associée (attribut) Fibromatosis true Inferred relationship Some 5
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) appareil locomoteur false Inferred relationship Some 1
Juvenile hyaline fibromatosis morphologie associée (attribut) dysplasie false Inferred relationship Some 1
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) structure osseuse true Inferred relationship Some 1
Juvenile hyaline fibromatosis morphologie associée (attribut) dysplasie false Inferred relationship Some 1
Juvenile hyaline fibromatosis morphologie associée (attribut) Myofibromatosis false Inferred relationship Some 1
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) structure osseuse false Inferred relationship Some 1
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) Skeletal system structure false Inferred relationship Some
Juvenile hyaline fibromatosis survenue (attribut) congénital false Inferred relationship Some
Juvenile hyaline fibromatosis localisation d'une constatation (attribut) Connective tissue false Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) Fibrous dysplasia of bone false Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) Myofibromatosis false Inferred relationship Some
Juvenile hyaline fibromatosis est un(e) (attribut) Congenital anomaly of skeletal bone false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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