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719687007: syndrome de fibromatose gingivale-dysmorphie faciale (trouble)


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
1006641000172116 syndrome de fibromatose gingivale-dysmorphie faciale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
754771000241112 syndrome de fibromatose gingivale-dysmorphie faciale (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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
syndrome de fibromatose gingivale-dysmorphie faciale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome de fibromatose gingivale-dysmorphie faciale Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
syndrome de fibromatose gingivale-dysmorphie faciale survenue (attribut) congénital true Inferred relationship Some 1
syndrome de fibromatose gingivale-dysmorphie faciale morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
syndrome de fibromatose gingivale-dysmorphie faciale localisation d'une constatation (attribut) face true Inferred relationship Some 1
syndrome de fibromatose gingivale-dysmorphie faciale est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
syndrome de fibromatose gingivale-dysmorphie faciale est un(e) (attribut) Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
syndrome de fibromatose gingivale-dysmorphie faciale est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
syndrome de fibromatose gingivale-dysmorphie faciale est un(e) (attribut) Hereditary gingival fibromatosis true Inferred relationship Some
syndrome de fibromatose gingivale-dysmorphie faciale morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 2
syndrome de fibromatose gingivale-dysmorphie faciale survenue (attribut) congénital false Inferred relationship Some 2
syndrome de fibromatose gingivale-dysmorphie faciale localisation d'une constatation (attribut) face false Inferred relationship Some 2
syndrome de fibromatose gingivale-dysmorphie faciale morphologie associée (attribut) Fibromatosis false Inferred relationship Some 3
syndrome de fibromatose gingivale-dysmorphie faciale localisation d'une constatation (attribut) gencive false Inferred relationship Some 3
syndrome de fibromatose gingivale-dysmorphie faciale morphologie associée (attribut) Fibromatosis true Inferred relationship Some 2
syndrome de fibromatose gingivale-dysmorphie faciale localisation d'une constatation (attribut) gencive true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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