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719687007: Gingival fibromatosis with facial dysmorphism syndrome (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
3317490016 Gingival fibromatosis with facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317491017 Gingival fibromatosis with facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317492012 A very rare syndrome with the association of gingival fibromatosis and craniofacial dysmorphism. It has been described in two siblings. Craniofacial dysmorphism consists of relative macrocephaly, bushy eyebrows with synophrys, hypertelorism, downslanting palpebral fissures, flattened nasal bridge and high arched palate. The patients have normal intellect.The condition seems to be hereditary, transmitted as an autosomal recessive trait. 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
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Is a Hereditary gingival fibromatosis true Inferred relationship Some
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 2
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Finding site Face structure false Inferred relationship Some 2
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Associated morphology Fibromatosis false Inferred relationship Some 3
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Finding site Gingival structure false Inferred relationship Some 3
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Associated morphology Fibromatosis true Inferred relationship Some 2
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Finding site Gingival structure true Inferred relationship Some 2
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Finding site Face structure true Inferred relationship Some 1
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Gingival fibromatosis with facial dysmorphism syndrome (disorder) Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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