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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
5402205019 A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402206018 A very rare syndrome characterised by the association of gingival fibromatosis and craniofacial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317490016 Gingival fibromatosis with facial dysmorphism syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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
5402205019 A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402206018 A very rare syndrome characterised by the association of gingival fibromatosis and craniofacial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3410681001000112 Gingivale Fibromatose-Gesichtsdysmorphie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1006641000172116 syndrome de fibromatose gingivale-dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1006641000172116 syndrome de fibromatose gingivale-dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3410681001000112 Gingivale Fibromatose-Gesichtsdysmorphie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Is a Hereditary gingival fibromatosis true Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Associated morphology Fibromatosis false Inferred relationship Existential restriction modifier (core metadata concept) 3
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Finding site Gingival structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Associated morphology Fibromatosis true Inferred relationship Existential restriction modifier (core metadata concept) 2
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Finding site Gingival structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A very rare syndrome characterized by the association of gingival fibromatosis and craniofacial dysmorphism. Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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