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238861002: juveniele hyaliene fibromatose (aandoening)


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
627799017 Juvenile hyaline fibromatosis (disorder) en Fully specified name 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
10215511000146119 juveniele hyaliene fibromatose nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10215521000146112 juveniele hyaliene fibromatose (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10215531000146114 syndroom van Murray-Puretic-Drescher nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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 Is a Fibrous dysplasia of bone false Inferred relationship Some
Juvenile hyaline fibromatosis Is a Myofibromatosis false Inferred relationship Some
Juvenile hyaline fibromatosis Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Juvenile hyaline fibromatosis Associated morphology Dysplasia false Inferred relationship Some 1
Juvenile hyaline fibromatosis Associated morphology Myofibromatosis false Inferred relationship Some 1
Juvenile hyaline fibromatosis Finding site Bone structure false Inferred relationship Some 1
Juvenile hyaline fibromatosis Finding site Skeletal system structure false Inferred relationship Some
Juvenile hyaline fibromatosis Occurrence Congenital false Inferred relationship Some
Juvenile hyaline fibromatosis Finding site Connective tissue false Inferred relationship Some
Juvenile hyaline fibromatosis Finding site Structure of musculoskeletal system (body structure) false Inferred relationship Some 1
Juvenile hyaline fibromatosis Associated morphology Dysplasia false Inferred relationship Some 1
Juvenile hyaline fibromatosis Finding site Bone structure true Inferred relationship Some 1
Juvenile hyaline fibromatosis Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Juvenile hyaline fibromatosis Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Juvenile hyaline fibromatosis Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Juvenile hyaline fibromatosis Associated morphology Fibrous dysplasia (morphologic abnormality) true Inferred relationship Some 1
Juvenile hyaline fibromatosis Occurrence Congenital true Inferred relationship Some 1
Juvenile hyaline fibromatosis Is a Developmental hereditary disorder false Inferred relationship Some
Juvenile hyaline fibromatosis Is a Hyaline fibromatosis syndrome true Inferred relationship Some
Juvenile hyaline fibromatosis Is a Hereditary disorder of the integument true Inferred relationship Some
Juvenile hyaline fibromatosis Associated morphology Hyaline degeneration true Inferred relationship Some 4
Juvenile hyaline fibromatosis Finding site Bone structure true Inferred relationship Some 3
Juvenile hyaline fibromatosis Associated morphology Osteolysis (morphologic abnormality) true Inferred relationship Some 3
Juvenile hyaline fibromatosis Finding site Joint structure true Inferred relationship Some 2
Juvenile hyaline fibromatosis Associated morphology Contracture true Inferred relationship Some 2
Juvenile hyaline fibromatosis Finding site Skin structure true Inferred relationship Some 5
Juvenile hyaline fibromatosis Associated morphology Fibromatosis false Inferred relationship Some 5
Juvenile hyaline fibromatosis Is a Benign fibromatous neoplasm of skin (disorder) true Inferred relationship Some
Juvenile hyaline fibromatosis Associated morphology Juvenile hyaline fibromatosis (morphologic abnormality) true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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